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
GALNT9_chr12_132191372_132334589	132304851	ACCCGGGC others(201): Show ACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGC CCGGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCC AGACACGCCCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCCGG GCACATCCTCACCGGGGCACACCCTCACCCAGACACACCCTCACCCGGGC ACAGAATCG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	-208	c.239 others(19): Show c.239-18629_239-18422del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GRP_chr18_59215158_59235771	59234211	GTATATAT others(201): Show GTATATATAATATAACATATTATACATACCATGGTATATATAATATAACA TATTATACATACCATGGTATATATATAATATAACATATTATACATACCAT GGTATATATATAATATAACATATTATACATACCATGGTATATATATAATA TAACATATTATACATACCATGGTATATATATAATATAACATATTATACAT ACCATGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	408	0.0025	-208	c.37 others(11): Show c.3744_*3951del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3441		chr18	TogoVar
GRTP1_chr13_113319163_113369130	113346175	CGGGAGGA others(201): Show CGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTG AGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGGACC TCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCG GGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAG AGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG02976.hp2 others(2): Show HG02717.hp2 HG02809.hp2 HG02976.hp2 HG03540.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0216 a0001c0001t0001g0224 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0002g0028 a0001c0001t0004g0040	5	288	0.0174	-208	c.466 others(17): Show c.466-1424_466-1217del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346342	GAGAGCGG others(201): Show GAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGAC CTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCC AGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGA CAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCT CTGTGGCAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	288	0.0035	-208	c.466 others(17): Show c.466-1591_466-1384del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346737	CCCGGGAG others(201): Show CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC AAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGA CCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC TGAGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	288	0.0035	-208	c.466 others(17): Show c.466-1986_466-1779del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346757	TGAGAGCG others(201): Show TGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGA CCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGA CCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGC TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACC TCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	288	0.0035	-208	c.466 others(17): Show c.466-2006_466-1799del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346769	TGGGAGGA others(201): Show TGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACA AGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	288	0.0035	-208	c.466 others(17): Show c.466-2018_466-1811del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347210	AGACCCAG others(201): Show AGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAG ATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGG CTGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	288	0.0035	-208	c.466 others(17): Show c.466-2459_466-2252del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HCN2_chr19_584881_622159	605320	GCCTTTCA others(201): Show GCCTTTCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCG GGCCCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACT CGGGCCCTTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGA CTCGGGCCCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAG GACTCGGGC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02056.hp2 others(13): Show HG01256.hp1 HG01258.hp2 HG02056.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0001c0015 others(8): Show a0001c0001 a0001c0006 a0001c0015 a0001c0030 a0001c0097 a0002c0004 a0002c0012 a0002c0036 a0002c0051 a0003c0121 a0005c0043	a0001c0001t0002 a0001c0001t0004 a0001c0006t0002 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0006t0002 a0001c0015t0001 a0001c0015t0004 a0001c0030t0004 a0001c0097t0001 a0002c0004t0004 a0002c0004t0006 a0002c0012t0001 a0002c0036t0001 a0002c0051t0011 a0003c0121t0004 a0005c0043t0006	a0001c0001t0002g0016 a0001c0001t0004g0068 a0001c0006t0002g0020 others(12): Show a0001c0001t0002g0016 a0001c0001t0004g0068 a0001c0006t0002g0020 a0001c0015t0001g0011 a0001c0015t0004g0021 a0001c0030t0004g0378 a0001c0097t0001g0119 a0002c0004t0004g0364 a0002c0004t0006g0353 a0002c0012t0001g0366 a0002c0036t0001g0008 a0002c0051t0011g0360 a0003c0121t0004g0236 a0005c0043t0006g0108 a0005c0043t0006g0109	16	408	0.0392	-208	c.121 others(17): Show c.1218+155_1218+362del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605377	ACAGAGGT others(201): Show ACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGC CCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGG GCCCTTTCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTC GGGCCCTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp1 HG01243.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0004 a0001c0026t0004 a0001c0001t0004 a0001c0026t0004	a0001c0001t0004g0229 a0001c0026t0004g0051 a0001c0001t0004g0229 a0001c0026t0004g0051	2	408	0.0049	-208	c.121 others(17): Show c.1218+207_1218+414del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(201): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCG CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGT GGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGG GCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0241 a0001c0001t0055g0241	1	416	0.0024	-208	c.342 others(15): Show c.342-388_342-181del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174304	GCTGTGGG others(201): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00621.hp1 others(40): Show HG00280.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01257.hp2 HG01433.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG03017.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18747.hp2 NA18964.hp2 NA18967.hp1 NA18982.hp1 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19012.hp1 NA19065.hp2 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(19): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0025 a0001c0001t0033 a0001c0001t0053 a0001c0001t0063 a0001c0001t0114 a0001c0001t0115 a0001c0001t0149 a0001c0001t0152 a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0050 a0002c0002t0066 a0002c0002t0068 a0002c0002t0102 a0002c0002t0123	a0001c0001t0006g0009 a0001c0001t0006g0038 a0001c0001t0006g0083 others(33): Show a0001c0001t0006g0009 a0001c0001t0006g0038 a0001c0001t0006g0083 a0001c0001t0006g0086 a0001c0001t0006g0089 a0001c0001t0006g0113 a0001c0001t0009g0009 a0001c0001t0009g0023 a0001c0001t0009g0074 a0001c0001t0010g0009 a0001c0001t0010g0023 a0001c0001t0025g0233 a0001c0001t0033g0025 a0001c0001t0053g0025 a0001c0001t0063g0080 a0001c0001t0114g0038 a0001c0001t0115g0009 a0001c0001t0149g0009 a0001c0001t0152g0025 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0077 a0002c0002t0001g0130 a0002c0002t0001g0178 a0002c0002t0003g0008 a0002c0002t0003g0076 a0002c0002t0003g0170 a0002c0002t0014g0176 a0002c0002t0029g0012 a0002c0002t0030g0085 a0002c0002t0031g0235 a0002c0002t0050g0072 a0002c0002t0066g0012 a0002c0002t0068g0012 a0002c0002t0102g0008 a0002c0002t0123g0008	43	416	0.1034	-208	c.342 others(15): Show c.342-384_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP5E_chr9_136423619_136444845	136431243	TTCCTCAT others(201): Show TTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCAT CTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCA CGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCC CCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGC CCTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01993.hp2 HG02257.hp2 others(4): Show HG01256.hp1 HG01993.hp2 HG02257.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0011 a0001c0004 a0001c0007 a0001c0011	a0001c0004t0004 a0001c0004t0011 a0001c0007t0004 others(1): Show a0001c0004t0004 a0001c0004t0011 a0001c0007t0004 a0001c0011t0004	a0001c0004t0004g0043 a0001c0004t0011g0198 a0001c0004t0011g0199 others(2): Show a0001c0004t0004g0043 a0001c0004t0011g0198 a0001c0004t0011g0199 a0001c0007t0004g0117 a0001c0011t0004g0022	7	382	0.0183	-208	c.155 others(17): Show c.1550-334_1550-127del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431474	CCCCCCAG others(201): Show CCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAG GCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCAC CTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTC ATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCT CCACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02559.hp2 others(1): Show HG01243.hp1 HG01261.hp1 HG02559.hp2 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0020 a0001c0003 a0004c0020	a0001c0003t0003 a0004c0020t0025 a0001c0003t0003 a0004c0020t0025	a0001c0003t0003g0041 a0001c0003t0003g0175 a0004c0020t0025g0200 a0001c0003t0003g0041 a0001c0003t0003g0175 a0004c0020t0025g0200	4	382	0.0105	-208	c.154 others(17): Show c.1549+142_1549+349del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
IRF4_chr6_386752_416443	396715	TTATCTCA others(201): Show TTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCT TCCTATCTCAGCCTCTCCTGCACTCCTTTAACCCCGTCTCGATGCCAGTG CTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAG TGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCC AGTGCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0225	1	460	0.0022	-208	c.493 others(15): Show c.493-355_493-148del	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITGB5_chr3_124756948_124892365	124764779	ATGAGGGC others(201): Show ATGAGGGCCCTGGGGCAGGGCTGCCTTTCCCCTCATGGGCAGCACCCACA TCCCGCCTGGCCCAGTCTCCATTGCAGGATGCTGGACCCGCTCAGCTTTC GTGTACATGGTTTCAGGAGCAGACTGGGCAGGCAGGAGGTACCATGAAGC CACATGAAGCCACTTCCACAAGGTCTGGGCTGGGGGCCAACATTTGTAAG CCTTTAGCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	352	0.0028	-208	c.213 others(17): Show c.2138-430_2138-223del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	13/14			chr3	TogoVar
KLHL32_chr6_96919728_97145753	97039523	GAAAATAG others(201): Show GAAAATAGCTAGAAGACAGCCGGGCGCAGTGGTTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCAAGAC CAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCCAGGAGTGGTGGCGGGCACCTATAGTCCCAGCTACTCGGGAAGCTGA GGTAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02083.hp2 others(29): Show HG01106.hp1 HG01884.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03834.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0004c0009 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0001t0037 a0001c0003t0005 a0001c0003t0008 a0001c0004t0006 a0001c0004t0014 a0001c0004t0016 a0001c0006t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0019 a0004c0009t0026 a0007c0010t0010	a0001c0001t0001g0099 a0001c0001t0002g0066 a0001c0001t0002g0067 others(27): Show a0001c0001t0001g0099 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0183 a0001c0001t0006g0095 a0001c0001t0009g0241 a0001c0001t0016g0172 a0001c0001t0020g0108 a0001c0001t0023g0173 a0001c0001t0028g0056 a0001c0001t0037g0068 a0001c0003t0005g0069 a0001c0003t0005g0210 a0001c0003t0008g0159 a0001c0003t0008g0160 a0001c0003t0008g0161 a0001c0004t0006g0151 a0001c0004t0014g0144 a0001c0004t0016g0145 a0001c0006t0017g0146 a0001c0006t0017g0147 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0121 a0002c0002t0001g0132 a0002c0002t0004g0197 a0002c0002t0006g0077 a0002c0002t0019g0078 a0004c0009t0026g0143 a0007c0010t0010g0153	32	244	0.1312	-208	c.205 others(17): Show c.205-1967_205-1760del	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	952969	CCCAAACC others(201): Show CCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCT ACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAG CCTCCTACATATCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGT CCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01934.hp1 HG01952.hp1 HG00642.hp1 HG01934.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223	3	294	0.0102	-208	c.503 others(17): Show c.503+1180_503+1387del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198004817	ACATCTAT others(201): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG04228.hp2 others(3): Show HG01257.hp1 HG01258.hp2 HG04228.hp2 NA18941.hp2 NA18994.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0042 a0001c0001t0001 a0001c0001t0011 a0001c0001t0042	a0001c0001t0001g0136 a0001c0001t0001g0249 a0001c0001t0001g0250 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0011g0208 a0001c0001t0011g0209 a0001c0001t0042g0165	6	258	0.0233	-208	c.131 others(19): Show c.1319+1900_1319+2107del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198005025	CCATCTAT others(201): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 NA19043.hp2 HG00642.hp1 HG01346.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0030 a0002c0002t0057 a0001c0001t0001 a0001c0001t0030 a0002c0002t0057	a0001c0001t0001g0153 a0001c0001t0030g0094 a0002c0002t0057g0027 a0001c0001t0001g0153 a0001c0001t0030g0094 a0002c0002t0057g0027	3	258	0.0116	-208	c.131 others(19): Show c.1319+1992_1319+2199del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRFN5_chr14_41601876_41909549	41808349	TGAAGGAA others(201): Show TGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAGGAAGGAAGGAAAGGAA GAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGAATCGAGGGAGGGAGGG AGGACCTATAAGATTAGTTCTGGAAAAAGTATACCCAATTGTGGCCAGAC AAGGAAGGAAGGGAGGAAGGAAGGGAGGGATGGAGGAAGGAAGGGAGGGA TGAAGGAAG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02015.hp2 HG02071.hp1 others(24): Show HG01257.hp1 HG02015.hp2 HG02071.hp1 HG02132.hp1 HG02155.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02922.hp2 HG03139.hp2 HG03225.hp1 NA18947.hp1 NA18950.hp2 NA18959.hp2 NA18964.hp1 NA18981.hp1 NA18984.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0025	a0001c0001t0003g0244 a0001c0001t0003g0272 a0001c0002t0001g0101 others(24): Show a0001c0001t0003g0244 a0001c0001t0003g0272 a0001c0002t0001g0101 a0001c0002t0001g0113 a0001c0002t0001g0149 a0001c0002t0001g0154 a0001c0002t0001g0168 a0001c0002t0001g0192 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0231 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0245 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0256 a0001c0002t0004g0153 a0001c0002t0025g0266	27	280	0.0964	-208	c.-21 others(19): Show c.-21+41346_-21+41553del	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
MC2R_chr18_13877044_13920536	13887180	GAAGCCTG others(201): Show GAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCCTCGGGGATGGGAG GGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCCTCAGGGATGGG AGGGGGCCTGTGTGCTGTGTCCCACCTGCTGGGAAAGCCTCAGGGATGGC AGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCCTCGGGGATG GCAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(107): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02622.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03490.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18982.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0005c0004t0060	a0001c0001t0002g0267 a0001c0001t0003g0044 a0001c0001t0003g0048 others(89): Show a0001c0001t0002g0267 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0248 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0298 a0001c0001t0003g0301 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0275 a0001c0001t0006g0010 a0001c0001t0006g0020 a0001c0001t0006g0269 a0001c0001t0006g0271 a0001c0001t0006g0276 a0001c0001t0006g0280 a0001c0001t0006g0304 a0001c0001t0011g0310 a0001c0001t0011g0311 a0001c0001t0011g0313 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0011g0317 a0001c0001t0011g0318 a0001c0001t0012g0052 a0001c0001t0012g0273 a0001c0001t0012g0281 a0001c0001t0012g0286 a0001c0001t0012g0299 a0001c0001t0012g0303 a0001c0001t0024g0024 a0001c0001t0024g0069 a0001c0001t0025g0054 a0001c0001t0025g0279 a0001c0001t0026g0249 a0001c0001t0026g0268 a0001c0001t0026g0270 a0001c0001t0027g0282 a0001c0001t0027g0291 a0001c0001t0027g0294 a0001c0001t0034g0072 a0001c0001t0034g0075 a0001c0001t0035g0049 a0001c0001t0036g0287 a0001c0001t0036g0305 a0001c0001t0037g0047 a0001c0001t0038g0260 a0001c0001t0038g0261 a0001c0001t0039g0255 a0001c0001t0039g0259 a0001c0001t0040g0295 a0001c0001t0040g0297 a0001c0001t0041g0283 a0001c0001t0041g0292 a0001c0001t0042g0053 a0001c0001t0061g0272 a0001c0001t0062g0074 a0001c0001t0063g0302 a0001c0001t0064g0253 a0001c0001t0065g0289 a0001c0001t0066g0076 a0001c0001t0067g0070 a0001c0001t0068g0073 a0001c0001t0069g0293 a0001c0001t0070g0071 a0001c0001t0071g0312 a0001c0001t0072g0296 a0001c0001t0073g0300 a0001c0001t0074g0277 a0001c0001t0075g0193 a0005c0004t0060g0309	110	416	0.2644	-208	c.-12 others(19): Show c.-128-1742_-128-1535del	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MLPH_chr2_237482251_237560322	237543484	AGTGACTG others(201): Show AGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGAC AGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGA CAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGG GCGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02486.hp2 HG02723.hp1	a0003 a0016 a0003 a0016	a0003c0003 a0016c0024 a0003c0003 a0016c0024	a0003c0003t0005 a0016c0024t0001 a0003c0003t0005 a0016c0024t0001	a0003c0003t0005g0136 a0016c0024t0001g0140 a0003c0003t0005g0136 a0016c0024t0001g0140	2	286	0.0070	-208	c.153 others(18): Show c.1539+830_1539+1037del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543580	GGGACAGT others(201): Show GGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGT GGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGAC TGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0024 a0024	a0024c0050 a0024c0050	a0024c0050t0005 a0024c0050t0005	a0024c0050t0005g0114 a0024c0050t0005g0114	1	286	0.0035	-208	c.153 others(18): Show c.1539+939_1539+1146del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOBP_chr3_39462680_39508027	39468766	GTGTATAT others(201): Show GTGTATATATACATATATACATGTGTGTGTATATATACATATGTGTGTGT ATACATATTACATATGTGTGTATATATACATATATACATGAGTGTGTATA TATACATATATACATATGTGTGTGTATATATACATATATACATATGAGTG TGTATATATACATATATACATTGTGTGTATATATACATATATACATATGT GTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18964.hp1 HG02155.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0183 a0001c0001t0002g0184	2	400	0.0050	-208	c.-89 others(17): Show c.-89+1028_-89+1235del	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085465	ACCGCTGT others(201): Show ACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCG TGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTC TGCGTGGCC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0016 a0016	a0016c0197 a0016c0197	a0016c0197t0001 a0016c0197t0001	a0016c0197t0001g0051 a0016c0197t0001g0051	1	403	0.0025	-208	c.164 others(16): Show c.1644+78_1644+285del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085511	CGTGGCCC others(201): Show CGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTC TGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGT GATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp2 HG02145.hp2 HG03486.hp2	a0002 a0013 a0002 a0013	a0002c0034 a0013c0181 a0002c0034 a0013c0181	a0002c0034t0001 a0013c0181t0001 a0002c0034t0001 a0013c0181t0001	a0002c0034t0001g0384 a0013c0181t0001g0388 a0002c0034t0001g0384 a0013c0181t0001g0388	2	403	0.0050	-208	c.164 others(17): Show c.1644+157_1644+364del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2004147	GTTCTTTC others(201): Show GTTCTTTCCTGTGTGCCTTCTTTCCTGCGTGCCTCCTTTCCTGCAGGCGT TCTTTCCTGAATGTGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGTTC TTTCCTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATGCGTTCTT TCCTGCATGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATACGTTCTTTC CTGCGTGCC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	104	0.0096	-208	c.-15 others(19): Show c.-157-7008_-157-6801del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NTM_chr11_131365615_132341822	132070959	GTCACAGG others(201): Show GTCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCACACTGA CCATCACAGGTTGGTTAACACGTCACTCAGCCAAGTTAACACGTCACACT GACCGTCACAGGTTAGTTAACACGTCACACAGCCAGGTTAGCACGTCACA CTGAGAATCACAGGTTAGTTAACACGTCACACAGTCAAGTTAACACGTCA AACTGACCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	86	0.0116	-208	c.168 others(19): Show c.168-75261_168-75054del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN5_chr19_48656407_48678017	48669513	TCACCACC others(201): Show TCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACC ACCATCACCACCATCACCACCACGACCACCATCACCACCACCACCATCAT CACCACCATCACCACCACCAGTCATCACCATCACCACCACCAACACCACC ACCATCACCATCATCACCACCATCACCACCACCATCATCACCATCACCAC CATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp2 HG01261.hp2 others(6): Show HG01123.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01934.hp1 HG01952.hp2 HG02273.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0048 a0001c0002t0002g0135 a0001c0002t0002g0014 a0001c0002t0002g0048 a0001c0002t0002g0135	9	412	0.0218	-208	c.631 others(15): Show c.631+635_631+842del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NXN_chr17_794310_984776	894052	TCCCTGGA others(201): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCC AGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGC CCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCA TCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(65): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01106.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0006t0005 a0001c0007t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0046 others(65): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0149 a0001c0001t0002g0169 a0001c0001t0002g0190 a0001c0001t0002g0204 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0084 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0006g0123 a0001c0001t0006g0168 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0010g0003 a0001c0001t0010g0006 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0016g0001 a0001c0001t0020g0164 a0001c0001t0021g0019 a0001c0001t0022g0151 a0001c0001t0024g0011 a0001c0001t0028g0091 a0001c0001t0029g0134 a0001c0001t0030g0237 a0001c0006t0005g0080 a0001c0007t0001g0089	68	242	0.2810	-208	c.361 others(19): Show c.361-68182_361-67975del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ORC5_chr7_104121341_104213013	104124116	AGACAGTA others(201): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	366	0.0027	-208	c.25 others(11): Show c.2524_*2731del	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
PCBP3_chr21_45638725_45947450	45815875	GTGAGTGG others(201): Show GTGAGTGGTGAGTGAGTGATGAGTGATGGGTGAGTGGTGAGTGATGAGTG AGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGATG AGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTAGTG AGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGATGAGTGAGT GGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	292	0.0034	-208	c.-12 others(21): Show c.-125-34072_-125-33865del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	584944	ACCTCCCG others(201): Show ACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCT GTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAAC CTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCA ACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCC CAACCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	408	0.0025	-208	c.19 others(11): Show c.1910_*2117del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		836		chr16	TogoVar
PPP2R2D_chr10_131896008_131964834	131916754	CGGGTGGA others(201): Show CGGGTGGAATGACACAGTGTAGGGACCTCACGCAGGTGGAATGACACAGT GTTTGTAGGGACCTCAGTCGGGTGGAATGACAGTGTTTGTAGGGACCTCA GGCGGGTGGAATGACAGTGTTTGTAGGGACCTCACGCAGGTGGAATGACA CAACGTTTGTAGGGACCTCAGGCGGGTGGAATGACACAGCGTTTGTAGGG ACCTCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02523.hp2 NA18959.hp1 others(3): Show HG02080.hp1 HG02523.hp2 NA18959.hp1 NA18969.hp1 NA18999.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0072 a0001c0001t0006g0076 others(3): Show a0001c0001t0006g0046 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0113 a0001c0001t0006g0135 a0001c0001t0006g0202	6	394	0.0152	-208	c.100 others(19): Show c.100+15454_100+15661del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PXDN_chr2_1626887_1749515	1703713	AGGGGGGG others(201): Show AGGGGGGGCAACTCCAGGTGAAGGGGGGGGCAACTCCAGGTGAAGGGGGG CAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCAG GTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGG GGGCAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGAGGGCAACTC CAGGTGAAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	322	0.0031	-208	c.201 others(19): Show c.201-10787_201-10580del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RGPD1_chr2_86937118_87018976	86993867	TAATACTT others(201): Show TAATACTTTGCATCCTTTAATCCAATCAAGTTGACACCCAGTATTAACCA TCACACTGTCCAAATGGAAAAATTATTAAACAAATCTTTTTTAAAATAAA ATGCTAGCTCTTGCCCTAGGCTTGAACCATAAATAAGTGGTGGGAAGTTT ATAGTCACAAATAGGTGGTGGGTATTAGAAAGCAGGATAAACTATCCTCT CACCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	102	0.0098	-208	c.490 others(17): Show c.4901-971_4901-764del	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RORA_chr15_60483284_61234302	60816082	GTATACTG others(201): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG03516.hp2 HG02572.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0035 a0001c0001t0040 a0001c0001t0010 a0001c0001t0035 a0001c0001t0040	a0001c0001t0010g0088 a0001c0001t0035g0101 a0001c0001t0040g0074 a0001c0001t0010g0088 a0001c0001t0035g0101 a0001c0001t0040g0074	3	118	0.0254	-208	c.167 others(21): Show c.167-137604_167-137397del	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPS6KA6_chrX_84053350_84193199	84191575	CATATATA others(201): Show CATATATATATATATCCATATATATATCCATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0062 a0002c0002t0003g0062	1	272	0.0037	-208	c.-38 others(11): Show c.-3884_-3677del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3377		chrX	TogoVar
SARDH_chr9_133658560_133743352	133668442	TTACCCTC others(201): Show TTACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCC TCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTC CCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0163 a0002c0002t0003g0163	1	262	0.0038	-208	c.249 others(19): Show c.2496-1780_2496-1573del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	CCCCGAGT others(201): Show CCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	290	0.0035	-208	c.166 others(18): Show c.1662+1041_1663-986del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDR9C7_chr12_56918133_56939408	56939200	ACCCACCT others(201): Show ACCCACCTGCCCAGCCTCCTCCACAGGCCTGGCCCTGTGCTTCACCTCAT GAGGACCCCACAGCACAGGCAGGCAGCTGAGGCTCCCCCTAGGTCTGGGC TGAAGACAAAAGTCATTCCCCCATTTCTGTTCAAGGCTGCCAGGTGGGGA TCCTCAATCTCCAGCTCAGATCCCACTGCCAGGACCCTCCCCAGCTTAGG AGGCTGCCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	430	0.0023	-208	c.-51 others(11): Show c.-5147_-4940del	SDR9C7	ENSG00000170426.2	transcript	ENST00000293502.2	protein_coding		4793		chr12	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368478	ATATAAAA others(201): Show ATATAAAATATATATATATTATATATATATATATAAAATATATATATATT ATATATATATATAAAATATATATATATTATATATATATAAAATATGTTAT ATATATATATAAAATATGTTATATATATAATATATATGTTATATATATAT ATAATATATATGTTATATATATAAAATATATATATTATATATATATAAAA TATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01943.hp2 others(12): Show HG00323.hp1 HG00639.hp2 HG01943.hp2 HG02109.hp1 HG02486.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0076 a0001c0001t0089 a0001c0002t0047 a0001c0002t0074 a0001c0003t0077 a0002c0004t0010 a0002c0004t0067 a0002c0010t0005	a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0002g0134 others(12): Show a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0006g0025 a0001c0001t0014g0136 a0001c0001t0076g0217 a0001c0001t0089g0265 a0001c0002t0047g0041 a0001c0002t0074g0209 a0001c0003t0077g0213 a0002c0004t0010g0056 a0002c0004t0010g0057 a0002c0004t0010g0058 a0002c0004t0067g0035 a0002c0010t0005g0059	15	280	0.0536	-208	c.427 others(17): Show c.427+5104_427+5311del	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35512151	TTTTTTTT others(201): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAAGCTCCGCCTCCCGGG TTCACACCATTCTCCTACCTCAGGGACTTGGTTCTATCACCCGGTAAACT TAAGATGGGAACAGAAAGTGGCAATTGTGTTTCTGGGAGAGAATTTAAAA AAGAGCTGA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18939.hp2 NA18955.hp1 others(4): Show HG02027.hp1 NA18939.hp2 NA18955.hp1 NA18972.hp1 NA19007.hp2 NA19065.hp2 NA19083.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0003 a0004c0004 others(1): Show a0001c0001 a0002c0003 a0004c0004 a0005c0006	a0001c0001t0006 a0001c0001t0012 a0002c0003t0001 others(2): Show a0001c0001t0006 a0001c0001t0012 a0002c0003t0001 a0004c0004t0003 a0005c0006t0005	a0001c0001t0006g0203 a0001c0001t0012g0193 a0001c0001t0012g0214 others(4): Show a0001c0001t0006g0203 a0001c0001t0012g0193 a0001c0001t0012g0214 a0002c0003t0001g0209 a0002c0003t0001g0211 a0004c0004t0003g0198 a0005c0006t0005g0187	7	360	0.0194	-208	c.86+ others(16): Show c.86+9920_86+10127del	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	2/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168560754	GCCCTGAG others(201): Show GCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 NA18612.hp1 HG00673.hp2 HG01069.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0166 a0001c0001t0003g0109 a0001c0002t0002g0057 a0001c0001t0001g0166 a0001c0001t0003g0109 a0001c0002t0002g0057	3	180	0.0167	-208	c.637 others(19): Show c.637+11629_637+11836del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561066	GCCCTGAG others(201): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	180	0.0056	-208	c.637 others(19): Show c.637+11889_637+12096del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561378	GCCCTGAG others(201): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA20905.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0066 a0001c0002t0002g0058 a0001c0002t0002g0066	2	180	0.0111	-208	c.637 others(19): Show c.637+12201_637+12408del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561455	CATTCTTG others(201): Show CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	180	0.0056	-208	c.637 others(19): Show c.637+12253_637+12460del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561461	TGGAGGAG others(201): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	180	0.0056	-208	c.637 others(19): Show c.637+12277_637+12484del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561820	GTTCTTGG others(201): Show GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCT CTCACTGCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02970.hp1 HG01256.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0007 a0001c0001t0003 a0001c0002t0007	a0001c0001t0003g0116 a0001c0002t0007g0053 a0001c0001t0003g0116 a0001c0002t0007g0053	2	180	0.0111	-208	c.637 others(19): Show c.637+12655_637+12862del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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