Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP4F11_chr19_15907377_15939529	15932001	TGAGGAGA others(333): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	386	0.0026	-340	c.198 others(17): Show c.198+1870_198+2209del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
GLS2_chr12_56465952_56493161	56481624	CTCACACC others(333): Show CTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACC TGAGGTTAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCT CTATTAAAAAATACAAAATTAACCGGGCATAGTGGCATCTGCCTGTAATC CCAGCTACTCCAGAAGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGTCA GAGGTTGCAGTGAGCCGAGATCACGCCATTACACTCCAGCCTGGGCAAAA AGAGCAAAACTCCATCTCAAAACAAACAAACAAAAACTTGGTAGGACATC AAAAGCTCTTTAAAACCTGCCAATTGGCCGGGCATGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02895.hp1 others(4): Show HG01167.hp1 HG01169.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057	7	362	0.0193	-340	c.183 others(17): Show c.183-1577_183-1238del	GLS2	ENSG00000135423.13	transcript	ENST00000311966.9	protein_coding	1/17			chr12	TogoVar
GMEB2_chr20_63582605_63632101	63607917	TCACCTCC others(333): Show TCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACCTCCATTTCTA GAAACATGCCCCTGTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTG ACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTC TAGAAACATGCCCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCGTG ACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTC TAGAAACATGCCCCTGTGACCTCACCTCCATTTCTAGAAACATGCCCCTC TGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGACCCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	330	0.0030	-340	c.132 others(17): Show c.132-3417_132-3078del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406083	GTGTTTGT others(333): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0195 a0001c0001t0195	a0001c0001t0195g0188 a0001c0001t0195g0188	1	276	0.0036	-340	c.41 others(9): Show c.411_*750del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	411		chr2	TogoVar
MAGI2_chr7_78012055_79458667	78728524	TCCATCTT others(333): Show TCCATCTTTCTCTGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCAGTGCAAGCTCCGCCTCCCGGGTTCACACCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG02965.hp2 others(1): Show HG00741.hp1 HG00741.hp2 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0017 a0001c0001t0002g0035 a0001c0002t0001g0025 others(1): Show a0001c0001t0001g0017 a0001c0001t0002g0035 a0001c0002t0001g0025 a0001c0009t0001g0019	4	40	0.1000	-340	c.419 others(21): Show c.419-101625_419-101286del	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
NELL1_chr11_20664586_21580686	20894974	TGAAATTA others(333): Show TGAAATTATTCCCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG02257.hp1 others(3): Show HG00735.hp1 HG01884.hp1 HG02257.hp1 HG02258.hp2 HG03453.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0003 a0002c0007 others(2): Show a0001c0001 a0002c0003 a0002c0007 a0004c0013 a0009c0018	a0001c0001t0001 a0002c0003t0001 a0002c0007t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0007t0001 a0004c0013t0001 a0009c0018t0001	a0001c0001t0001g0071 a0002c0003t0001g0003 a0002c0007t0001g0002 others(3): Show a0001c0001t0001g0071 a0002c0003t0001g0003 a0002c0007t0001g0002 a0002c0007t0001g0028 a0004c0013t0001g0005 a0009c0018t0001g0045	6	88	0.0682	-340	c.603 others(17): Show c.603+9446_603+9785del	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU4_chr2_241804193_241822413	241806462	TCCCCCCT others(333): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	319	0.0031	-340	c.-28 others(11): Show c.-2815_-2476del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2730		chr2	TogoVar
OR2T6_chr1_248370746_248396811	248384244	CTCCTGAA others(333): Show CTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAG CCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATG GAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGGTGTGTTT CCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCA TCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCA CTACCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCAT CATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp2 HG01884.hp2 others(21): Show HG00735.hp2 HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0001t0042 a0008c0010t0004	a0001c0001t0004g0005 a0001c0001t0004g0041 a0001c0001t0004g0045 others(7): Show a0001c0001t0004g0005 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0006g0005 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0014g0016 a0001c0001t0019g0005 a0001c0001t0042g0005 a0008c0010t0004g0005	24	403	0.0596	-340	c.-15 others(17): Show c.-158-449_-158-110del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248384278	TAAAGCAC others(333): Show TAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTATCCTGGTGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACT AGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCA TGGGTAAAGCACTGCACTACCCTGAGTGTGCTCATCCTATCCTGATGTGT TTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCT CATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp1 HG02280.hp2 others(5): Show HG01099.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02818.hp1 HG03041.hp1 HG03209.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0032 a0002c0002t0035 a0002c0002t0008 a0002c0002t0032 a0002c0002t0035	a0002c0002t0008g0013 a0002c0002t0008g0020 a0002c0002t0008g0059 others(2): Show a0002c0002t0008g0013 a0002c0002t0008g0020 a0002c0002t0008g0059 a0002c0002t0032g0061 a0002c0002t0035g0013	8	403	0.0199	-340	c.-15 others(16): Show c.-158-407_-158-68del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248384304	CTCATCCT others(333): Show CTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAGCAC TGCACTAGCCTGAGTGTGCTCATCCTATCCTGGTGTGTTTCCTAGTGTTA TCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTG AAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTACCCTGAG TGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAA GCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAGT GTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(103): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01255.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19055.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19084.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0002 a0002c0015 a0004c0004 others(1): Show a0002c0002 a0002c0015 a0004c0004 a0010c0016	a0002c0002t0002 a0002c0002t0026 a0002c0002t0027 others(6): Show a0002c0002t0002 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0015t0002 a0004c0004t0007 a0004c0004t0033 a0010c0016t0030	a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0019 others(22): Show a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0019 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0087 a0002c0002t0002g0094 a0002c0002t0026g0001 a0002c0002t0027g0001 a0002c0002t0028g0050 a0002c0002t0029g0001 a0002c0015t0002g0001 a0004c0004t0007g0010 a0004c0004t0007g0067 a0004c0004t0033g0010 a0010c0016t0030g0009	106	403	0.2630	-340	c.-15 others(16): Show c.-158-399_-158-60del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31510609	TACATATG others(333): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	244	0.0041	-340	c.894 others(17): Show c.894-7131_894-6792del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3686569	TCCCCCGC others(333): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCC TGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	362	0.0028	-340	c.981 others(17): Show c.981+1103_981+1442del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCGF3_chr4_700832_775089	746124	CCGGGGGT others(333): Show CCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0022 a0001c0001t0047g0022	1	366	0.0027	-340	c.462 others(17): Show c.462+1438_462+1777del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PHACTR4_chr1_28364740_28505364	28410810	GATTCTCC others(333): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACCAGCACCTGCCA CCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATG TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCGTG GCCTCCCAAAGTGGCGGGAATTGCAGGCGTGAGCCACCATGCCCGGCTGA GATTATTTTTTATTTTTATTTTTTTGGTTTGTTTTTGTTTTTTGGGGGTT TTTTTGAGGTGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAATGGTGT GATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp2 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0050 a0001c0001t0047 a0001c0001t0050	a0001c0001t0047g0097 a0001c0001t0050g0098 a0001c0001t0047g0097 a0001c0001t0050g0098	2	228	0.0088	-340	c.16+ others(15): Show c.16+3368_16+3707del	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	390478	CGTCCTGA others(333): Show CGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCC TCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGA CCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCC CTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGACCCCAGGAGAACCCC CGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCCCTTCCCCAGAGGAGC GCCGGGGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGC CTGCCTCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00609.hp2 others(76): Show HG00099.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18966.hp1 NA18970.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18994.hp1 NA18995.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0008 a0009 a0018	a0001c0001 a0001c0004 a0001c0005 others(11): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0018 a0001c0021 a0004c0015 a0005c0037 a0008c0024 a0009c0023 a0018c0026	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(12): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0003 a0001c0011t0001 a0001c0018t0001 a0001c0021t0001 a0004c0015t0001 a0005c0037t0005 a0008c0024t0002 a0009c0023t0002 a0018c0026t0004	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0215 a0001c0004t0001g0094 a0001c0005t0001g0029 a0001c0005t0001g0082 a0001c0005t0001g0083 a0001c0005t0001g0090 a0001c0005t0001g0091 a0001c0006t0001g0027 a0001c0006t0001g0058 a0001c0006t0001g0060 a0001c0006t0001g0061 a0001c0007t0001g0021 a0001c0010t0001g0023 a0001c0010t0003g0017 a0001c0010t0003g0018 a0001c0011t0001g0001 a0001c0011t0001g0033 a0001c0011t0001g0051 a0001c0018t0001g0059 a0001c0021t0001g0086 a0004c0015t0001g0041 a0004c0015t0001g0042 a0005c0037t0005g0087 a0008c0024t0002g0022 a0009c0023t0002g0052 a0018c0026t0004g0092	79	216	0.3657	-340	c.-38 others(11): Show c.-3814_-3475del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding		3730		chr11	TogoVar
PKP3_chr11_389209_409908	400810	CGCCCCGC others(333): Show CGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGAC CCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGC TCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCC GGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	216	0.0046	-340	c.173 others(17): Show c.1737+117_1737+456del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLDIP3_chr22_42578721_42619883	42579397	TGAGAGTC others(333): Show TGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTCG CTCACTGCAACTTCCGCCTACCAGGTTTAAGCAATTCTTGTGCCTCAGTC TCCCAACTAGTTGGGATTACAGGCGTGCGCCACCACGTCCGGCTAATTTT TGGGGTTTTTTGGGTTCTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGC TGGAGTGCAGTGGCATGATCTTCGCTCACTGCAACTTCCGCCTACCAGGT TTAAGCAATTCTTGTGCCTCAGTCTCCCAACTAGTTGGGATTACAGGCGT GCGCCACCACGTCCGGCTAATTTTTGGGGTTTTTTGGGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0232 a0002c0002t0004g0232	1	360	0.0028	-340	c.60 others(11): Show c.6054_*6393del	POLDIP3	ENSG00000100227.19	transcript	ENST00000252115.10	protein_coding		4323		chr22	TogoVar
SHC2_chr19_411589_466033	433303	CGTGAGTG others(333): Show CGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGG CGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAG ATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGG CCGGGCAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAGAGATAGAG GAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0006 a0001c0007t0003 a0001c0007t0006	a0001c0007t0003g0030 a0001c0007t0006g0042 a0001c0007t0003g0030 a0001c0007t0006g0042	2	212	0.0094	-340	c.111 others(19): Show c.1110+1066_1110+1405del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	400810	CGCCCCGC others(333): Show CGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGAC CCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGC TCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCC GGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	242	0.0041	-340	c.47 others(11): Show c.4746_*5085del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4905		chr11	TogoVar
SLX9_chr21_44935029_44981973	44981515	AGACAGCG others(333): Show AGACAGCGGGGCCTGGATGGGCCCTGCACACAGAGCCTGCGTGTGGTGTT CACGGGGGACAGCGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTG TGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCC TGCGTGTGGTGTTCACGGGGGACAGCGGGGCCCGGACGGGGCCCTGCACA CAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCC CTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCCGGA CGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	334	0.0030	-340	c.47 others(11): Show c.4713_*5052del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4543		chr21	TogoVar
SNTG2_chr2_945849_1372613	1344058	GGCACTTT others(333): Show GGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGTGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0001 a0014c0035t0001	a0014c0035t0001g0071 a0014c0035t0001g0071	1	190	0.0053	-340	c.148 others(21): Show c.1489-23272_1489-22933del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPRYD4_chr12_56463578_56484708	56481624	CTCACACC others(333): Show CTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACC TGAGGTTAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCT CTATTAAAAAATACAAAATTAACCGGGCATAGTGGCATCTGCCTGTAATC CCAGCTACTCCAGAAGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGTCA GAGGTTGCAGTGAGCCGAGATCACGCCATTACACTCCAGCCTGGGCAAAA AGAGCAAAACTCCATCTCAAAACAAACAAACAAAAACTTGGTAGGACATC AAAAGCTCTTTAAAACCTGCCAATTGGCCGGGCATGGTGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG01169.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0040 others(1): Show a0001c0001t0005 a0001c0001t0026 a0001c0001t0040 a0001c0001t0095	a0001c0001t0005g0001 a0001c0001t0026g0001 a0001c0001t0040g0001 others(1): Show a0001c0001t0005g0001 a0001c0001t0026g0001 a0001c0001t0040g0001 a0001c0001t0095g0001	6	370	0.0162	-340	c.12 others(13): Show c.12048_*12387del	SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding		1917		chr12	TogoVar
STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(333): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19062.hp1 NA18956.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0002g0115 a0001c0001t0002g0133	2	302	0.0066	-340	c.551 others(14): Show c.551-384_551-45del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338161	GGACCTGA others(333): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04115.hp2 HG04199.hp2 HG02165.hp1 HG04115.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0021g0002 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0021g0002	3	302	0.0099	-340	c.550 others(15): Show c.550+230_551-305del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
VCX3A_chrX_6528618_6540118	6532987	CCACACAC others(333): Show CCACACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	74	0.0135	-340	c.41 others(9): Show c.418_*757del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		630		chrX	TogoVar
ADARB2_chr10_1172313_1742525	1327059	CCAGCGCC others(332): Show CCAGCGCCTCCCCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCCCA CGGCACAGCGCCTCACTGCACAGCGCCTCCTCACTGCACAGTGCCTCGTC ACAGTTTAGTGCCTGCCCACAGTTCAGCGCCTCCCCAAGGCACAGCGCCT CCTCACAGTTCAGCGCCTCCCCACGGCACAGCACCTCCTCACTGCCCAGC GCCTCCTCACTGCACAGCGCCTCCTCACTGCCCAGCGCCTCCCCACGGCA CAGCACCTCCTCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCTCAC GGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	106	0.0094	-339	c.107 others(21): Show c.1077+35630_1077+35968del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
AS3MT_chr10_102864470_102906899	102885490	AACTAATT others(332): Show AACTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(185): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0009t0013 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(177): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0005g0006 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0013g0181 a0001c0001t0013g0192 a0001c0001t0013g0193 a0001c0001t0013g0215 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0028g0087 a0001c0001t0029g0182 a0001c0001t0030g0005 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0009t0013g0262 a0001c0011t0002g0132 a0002c0012t0006g0167	188	362	0.5193	-339	c.886 others(17): Show c.886-5043_886-4705del	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906419	TAAAACAC others(332): Show TAAAACACTTTGTCCTTTTGGCTGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGCCAGGAGATCGAG ACCATACTGGCTAACATGGTGAAACTCCGTCTCTACCAAAAATACAAAAA AAGAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGGATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTG AGCCGACATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(172): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0001 a0003c0008	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(65): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0025 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0039 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0051 a0001c0002t0052 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0069 a0001c0002t0072 a0001c0002t0080 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0003t0014 a0001c0003t0020 a0001c0003t0031 a0001c0003t0032 a0001c0003t0033 a0001c0003t0055 a0001c0003t0056 a0001c0003t0057 a0001c0003t0058 a0001c0003t0059 a0001c0003t0060 a0001c0005t0004 a0001c0006t0079 a0002c0001t0008 a0002c0001t0009 a0002c0001t0013 a0002c0001t0015 a0002c0001t0034 a0002c0001t0038 a0002c0001t0041 a0002c0001t0042 a0002c0001t0043 a0002c0001t0044 a0002c0001t0067 a0002c0001t0068 a0002c0001t0070 a0002c0001t0071 a0002c0001t0073 a0003c0008t0013	a0001c0002t0003g0048 a0001c0002t0003g0065 a0001c0002t0003g0068 others(171): Show a0001c0002t0003g0048 a0001c0002t0003g0065 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0140 a0001c0002t0003g0143 a0001c0002t0003g0275 a0001c0002t0004g0049 a0001c0002t0004g0051 a0001c0002t0004g0067 a0001c0002t0004g0071 a0001c0002t0004g0076 a0001c0002t0004g0079 a0001c0002t0004g0088 a0001c0002t0004g0100 a0001c0002t0004g0105 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0118 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0277 a0001c0002t0006g0011 a0001c0002t0006g0025 a0001c0002t0006g0125 a0001c0002t0006g0126 a0001c0002t0006g0129 a0001c0002t0006g0130 a0001c0002t0006g0132 a0001c0002t0006g0163 a0001c0002t0006g0193 a0001c0002t0006g0253 a0001c0002t0007g0026 a0001c0002t0007g0027 a0001c0002t0007g0031 a0001c0002t0007g0034 a0001c0002t0007g0036 a0001c0002t0007g0135 a0001c0002t0007g0192 a0001c0002t0007g0269 a0001c0002t0007g0271 a0001c0002t0010g0028 a0001c0002t0010g0032 a0001c0002t0010g0033 a0001c0002t0010g0170 a0001c0002t0010g0191 a0001c0002t0010g0194 a0001c0002t0016g0094 a0001c0002t0016g0098 a0001c0002t0016g0099 a0001c0002t0016g0108 a0001c0002t0017g0039 a0001c0002t0017g0090 a0001c0002t0017g0104 a0001c0002t0017g0117 a0001c0002t0021g0074 a0001c0002t0021g0154 a0001c0002t0021g0155 a0001c0002t0022g0265 a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0023g0002 a0001c0002t0023g0127 a0001c0002t0023g0128 a0001c0002t0025g0029 a0001c0002t0025g0030 a0001c0002t0025g0035 a0001c0002t0027g0014 a0001c0002t0027g0015 a0001c0002t0028g0061 a0001c0002t0029g0066 a0001c0002t0029g0124 a0001c0002t0030g0139 a0001c0002t0030g0144 a0001c0002t0033g0270 a0001c0002t0035g0131 a0001c0002t0035g0134 a0001c0002t0036g0070 a0001c0002t0037g0160 a0001c0002t0039g0013 a0001c0002t0045g0111 a0001c0002t0046g0062 a0001c0002t0047g0106 a0001c0002t0048g0080 a0001c0002t0049g0085 a0001c0002t0051g0136 a0001c0002t0052g0195 a0001c0002t0061g0164 a0001c0002t0062g0137 a0001c0002t0063g0213 a0001c0002t0064g0037 a0001c0002t0065g0251 a0001c0002t0066g0211 a0001c0002t0069g0212 a0001c0002t0072g0162 a0001c0002t0080g0172 a0001c0002t0081g0169 a0001c0002t0082g0197 a0001c0002t0083g0198 a0001c0003t0014g0005 a0001c0003t0014g0007 a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0014g0012 a0001c0003t0020g0156 a0001c0003t0020g0157 a0001c0003t0020g0158 a0001c0003t0031g0018 a0001c0003t0031g0020 a0001c0003t0032g0004 a0001c0003t0032g0009 a0001c0003t0033g0019 a0001c0003t0055g0006 a0001c0003t0056g0252 a0001c0003t0057g0003 a0001c0003t0058g0276 a0001c0003t0059g0210 a0001c0003t0060g0153 a0001c0005t0004g0063 a0001c0006t0079g0161 a0002c0001t0008g0043 a0002c0001t0008g0053 a0002c0001t0008g0054 a0002c0001t0008g0055 a0002c0001t0008g0056 a0002c0001t0008g0057 a0002c0001t0008g0060 a0002c0001t0009g0001 a0002c0001t0009g0041 a0002c0001t0009g0042 a0002c0001t0009g0045 a0002c0001t0009g0046 a0002c0001t0009g0047 a0002c0001t0013g0072 a0002c0001t0013g0082 a0002c0001t0013g0102 a0002c0001t0013g0107 a0002c0001t0015g0044 a0002c0001t0015g0050 a0002c0001t0015g0073 a0002c0001t0015g0123 a0002c0001t0034g0147 a0002c0001t0034g0148 a0002c0001t0038g0040 a0002c0001t0041g0058 a0002c0001t0042g0059 a0002c0001t0043g0052 a0002c0001t0044g0078 a0002c0001t0067g0165 a0002c0001t0068g0146 a0002c0001t0070g0203 a0002c0001t0071g0171 a0002c0001t0073g0268 a0003c0008t0013g0064	175	278	0.6295	-339	c.531 others(17): Show c.531-5802_531-5464del	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BPHL_chr6_3113711_3158578	3146219	TGGAGTGC others(332): Show TGGAGTGCTGGTTCTGGTTGGAGTGCTGATTCGGGTCGGAGTGCTGGTTC GGGTCGGAGTGCTGGTTCGGGTCGAGTGCTGGTTCGGGTTGGAGTGCTGG TTCGGGTCAGAGTGCTGGTTCGGGGTGGAGTGCTGGTGTGGGTTGGAGTG CTGGTTCCAGTTGAGTGCTGATTTGGGTCGGAGTGCTGGTTTGGGTTGAG TGCTGGTTTGGGTCGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTCGGGTT GGAGTGCTGGTTCCAGCTGGAGTGCTGGTTTGGGGTGGAGTGCTGGTGTG GGTCGGAGTGCTGGTTTGGGTCGAGTGCTGGTTTGGGTCG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01975.hp1 others(28): Show HG01081.hp1 HG01099.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02145.hp2 HG02257.hp1 HG02300.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG06807.hp2 NA18946.hp1 NA18952.hp1 NA18965.hp1 NA18980.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 a0002c0003t0005 a0005c0009t0001	a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0002t0003g0009 others(21): Show a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0002t0003g0009 a0001c0002t0003g0247 a0001c0002t0003g0249 a0001c0002t0003g0251 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0002c0003t0001g0005 a0002c0003t0001g0035 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0005g0035 a0005c0009t0001g0235	31	350	0.0886	-339	c.788 others(17): Show c.788+5724_789-5917del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC183_chr9_136791338_136812741	136802808	GGGGGCCC others(332): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0076 a0005c0005t0001g0076	1	398	0.0025	-339	c.666 others(15): Show c.666+157_666+495del	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP299_chr4_80330730_80968750	80381372	ACATATAC others(332): Show ACATATACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(79): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0002c0002 a0002c0005 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0009t0002 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0003t0001g0035 a0001c0003t0001g0038 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0004t0001g0050 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0009t0002g0015 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0075 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034 a0002c0007t0001g0047	82	96	0.8542	-339	c.242 others(19): Show c.242+18502_242+18840del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHORDC1_chr11_90195429_90228049	90199345	GAGTTTAC others(332): Show GAGTTTACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAATAAATAAATAAAAAAAATAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(198): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19059.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 others(99): Show a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0004g0003 a0001c0001t0004g0015 a0001c0001t0004g0034 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0060 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0006g0035 a0001c0001t0006g0038 a0001c0001t0006g0070 a0001c0001t0006g0089 a0001c0001t0006g0181 a0001c0001t0007g0012 a0001c0001t0007g0185 a0001c0001t0008g0043 a0001c0001t0008g0061 a0001c0001t0008g0105 a0001c0001t0008g0109 a0001c0001t0008g0117 a0001c0001t0010g0055 a0001c0001t0010g0177 a0001c0001t0010g0178 a0001c0001t0010g0179 a0001c0001t0010g0180 a0001c0001t0012g0057 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0020g0090 a0001c0001t0021g0171 a0001c0001t0022g0182	201	412	0.4879	-339	c.27 others(11): Show c.2721_*3059del	CHORDC1	ENSG00000110172.12	transcript	ENST00000320585.11	protein_coding		1083		chr11	TogoVar
DIP2C_chr10_269201_694668	455326	GACCGTGA others(332): Show GACCGTGAGGAATAAATGAGATGAAAACACTGCAGTGAGTCCCTGCCTGA GGGGAGACCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCC TGCCTGAGGGGAGACCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGT GAGTCCCTGCCTGAGGGGAGACCGTGAGGAGCAAATGAGATGAAAACACT CTGCAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGCAAATGAGATGA AAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGCAAAT GAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0052 a0001c0012t0002g0052	1	88	0.0114	-339	c.269 others(19): Show c.269-14669_269-14331del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DMXL2_chr15_51442791_51627771	51605504	ACAGATTA others(332): Show ACAGATTAATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CCGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(144): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0009 a0011 a0012 a0013 a0015 a0016 a0017	a0001c0010 a0002c0002 a0002c0004 others(17): Show a0001c0010 a0002c0002 a0002c0004 a0002c0006 a0002c0008 a0002c0014 a0002c0027 a0002c0028 a0002c0031 a0002c0032 a0002c0033 a0004c0005 a0004c0035 a0009c0036 a0011c0029 a0012c0030 a0013c0034 a0015c0026 a0016c0025 a0017c0024	a0001c0010t0002 a0002c0002t0001 a0002c0002t0006 others(21): Show a0001c0010t0002 a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0004t0001 a0002c0004t0008 a0002c0006t0001 a0002c0008t0001 a0002c0014t0001 a0002c0027t0001 a0002c0028t0001 a0002c0031t0001 a0002c0032t0001 a0002c0033t0007 a0004c0005t0001 a0004c0035t0001 a0009c0036t0001 a0011c0029t0001 a0012c0030t0001 a0013c0034t0007 a0015c0026t0001 a0016c0025t0001 a0017c0024t0001	a0001c0010t0002g0276 a0001c0010t0002g0277 a0001c0010t0002g0281 others(140): Show a0001c0010t0002g0276 a0001c0010t0002g0277 a0001c0010t0002g0281 a0001c0010t0002g0282 a0002c0002t0001g0005 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0250 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0006g0330 a0002c0002t0006g0337 a0002c0002t0010g0212 a0002c0002t0012g0339 a0002c0004t0001g0006 a0002c0004t0001g0297 a0002c0004t0001g0298 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0301 a0002c0004t0001g0302 a0002c0004t0001g0303 a0002c0004t0001g0304 a0002c0004t0001g0305 a0002c0004t0001g0306 a0002c0004t0001g0307 a0002c0004t0001g0308 a0002c0004t0001g0309 a0002c0004t0001g0310 a0002c0004t0001g0312 a0002c0004t0001g0314 a0002c0004t0001g0315 a0002c0004t0001g0316 a0002c0004t0001g0317 a0002c0004t0001g0318 a0002c0004t0001g0319 a0002c0004t0008g0313 a0002c0006t0001g0001 a0002c0006t0001g0040 a0002c0006t0001g0041 a0002c0006t0001g0042 a0002c0006t0001g0043 a0002c0006t0001g0044 a0002c0006t0001g0045 a0002c0006t0001g0046 a0002c0006t0001g0047 a0002c0008t0001g0249 a0002c0008t0001g0270 a0002c0008t0001g0271 a0002c0008t0001g0272 a0002c0008t0001g0273 a0002c0008t0001g0274 a0002c0008t0001g0275 a0002c0014t0001g0222 a0002c0014t0001g0223 a0002c0027t0001g0333 a0002c0028t0001g0267 a0002c0031t0001g0288 a0002c0032t0001g0252 a0002c0033t0007g0210 a0004c0005t0001g0208 a0004c0005t0001g0209 a0004c0005t0001g0320 a0004c0005t0001g0321 a0004c0005t0001g0322 a0004c0005t0001g0323 a0004c0005t0001g0324 a0004c0005t0001g0325 a0004c0005t0001g0326 a0004c0005t0001g0327 a0004c0005t0001g0328 a0004c0005t0001g0329 a0004c0035t0001g0207 a0009c0036t0001g0232 a0011c0029t0001g0251 a0012c0030t0001g0269 a0013c0034t0007g0211 a0015c0026t0001g0287 a0016c0025t0001g0253 a0017c0024t0001g0311	147	346	0.4249	-339	c.87+ others(17): Show c.87+16616_87+16954del	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNAAF9_chr20_3244306_3412669	3394949	CTTTTTTT others(332): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCATGTAG CTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATTTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCTGGCCGAACATTTTCTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp1 HG02486.hp2 others(4): Show HG00408.hp1 HG02080.hp1 HG02486.hp2 HG02895.hp1 HG03225.hp2 NA18906.hp1 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0006 a0001c0020t0024 a0001c0003t0006 a0001c0020t0024	a0001c0003t0006g0008 a0001c0003t0006g0009 a0001c0003t0006g0348 others(4): Show a0001c0003t0006g0008 a0001c0003t0006g0009 a0001c0003t0006g0348 a0001c0003t0006g0349 a0001c0003t0006g0350 a0001c0003t0006g0351 a0001c0020t0024g0067	7	362	0.0193	-339	c.83+ others(17): Show c.83+12187_84-12444del	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	1/36			chr20	TogoVar
DOCK7_chr1_62449726_62693386	62686148	AAGTAATA others(332): Show AAGTAATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0007 others(9): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0011 a0002c0003 a0002c0005 a0004c0008 a0005c0009 a0006c0012 a0007c0013 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0007t0004 a0001c0010t0006 a0001c0011t0002 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0005t0002 a0004c0008t0001 a0005c0009t0002 a0006c0012t0001 a0007c0013t0002 a0008c0014t0002	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(207): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0076 a0001c0001t0005g0185 a0001c0001t0005g0206 a0001c0002t0001g0091 a0001c0002t0001g0164 a0001c0002t0001g0178 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0086 a0001c0002t0007g0057 a0001c0002t0008g0056 a0001c0007t0004g0001 a0001c0007t0004g0002 a0001c0010t0006g0009 a0001c0011t0002g0054 a0002c0003t0001g0087 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0005t0001g0224 a0002c0005t0002g0082 a0002c0005t0002g0084 a0002c0005t0002g0085 a0004c0008t0001g0191 a0005c0009t0002g0042 a0006c0012t0001g0227 a0007c0013t0002g0083 a0008c0014t0002g0053	210	228	0.9211	-339	c.38+ others(15): Show c.38+1740_38+2078del	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	1/49			chr1	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(332): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	170	0.0059	-339	c.354 others(17): Show c.3540+459_3540+797del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819013	GGCGCCGT others(332): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19005.hp1 HG00099.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0076 a0001c0002t0001g0035 a0001c0001t0001g0076 a0001c0002t0001g0035	2	170	0.0118	-339	c.354 others(18): Show c.3540+877_3540+1215del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBXL13_chr7_102806189_103079796	102848257	TAAAAAAT others(332): Show TAAAAAATACACATTCGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAAGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(206): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0002 a0001c0009 a0002c0003 others(14): Show a0001c0002 a0001c0009 a0002c0003 a0002c0010 a0003c0004 a0004c0005 a0006c0007 a0007c0011 a0008c0012 a0010c0017 a0011c0019 a0012c0013 a0013c0015 a0014c0016 a0015c0021 a0016c0018 a0017c0023	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(30): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0009t0001 a0001c0009t0008 a0001c0009t0022 a0002c0003t0001 a0002c0003t0004 a0002c0003t0013 a0002c0003t0014 a0002c0010t0001 a0003c0004t0001 a0003c0004t0004 a0003c0004t0006 a0003c0004t0019 a0004c0005t0001 a0006c0007t0001 a0007c0011t0005 a0008c0012t0007 a0010c0017t0011 a0011c0019t0018 a0012c0013t0001 a0013c0015t0001 a0014c0016t0011 a0015c0021t0001 a0016c0018t0001 a0017c0023t0007	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 others(206): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0067 a0001c0002t0001g0086 a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0137 a0001c0002t0001g0143 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0154 a0001c0002t0001g0159 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0197 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0305 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0006g0196 a0001c0002t0006g0297 a0001c0002t0006g0316 a0001c0002t0009g0007 a0001c0002t0009g0023 a0001c0002t0009g0094 a0001c0002t0010g0127 a0001c0002t0010g0128 a0001c0002t0010g0129 a0001c0002t0016g0131 a0001c0002t0017g0214 a0001c0002t0020g0095 a0001c0002t0021g0088 a0001c0009t0001g0140 a0001c0009t0001g0211 a0001c0009t0001g0212 a0001c0009t0001g0213 a0001c0009t0008g0216 a0001c0009t0008g0217 a0001c0009t0008g0218 a0001c0009t0022g0328 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0262 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0272 a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0306 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0314 a0002c0003t0004g0251 a0002c0003t0004g0261 a0002c0003t0004g0269 a0002c0003t0013g0324 a0002c0003t0014g0250 a0002c0010t0001g0237 a0002c0010t0001g0238 a0002c0010t0001g0239 a0002c0010t0001g0240 a0002c0010t0001g0241 a0003c0004t0001g0002 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0142 a0003c0004t0001g0147 a0003c0004t0001g0151 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0164 a0003c0004t0001g0169 a0003c0004t0001g0172 a0003c0004t0001g0173 a0003c0004t0001g0175 a0003c0004t0001g0176 a0003c0004t0001g0178 a0003c0004t0001g0179 a0003c0004t0001g0181 a0003c0004t0001g0183 a0003c0004t0001g0184 a0003c0004t0001g0190 a0003c0004t0001g0191 a0003c0004t0001g0192 a0003c0004t0001g0193 a0003c0004t0001g0199 a0003c0004t0001g0200 a0003c0004t0001g0221 a0003c0004t0004g0177 a0003c0004t0006g0222 a0003c0004t0019g0198 a0004c0005t0001g0146 a0004c0005t0001g0153 a0004c0005t0001g0155 a0004c0005t0001g0158 a0004c0005t0001g0161 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0165 a0004c0005t0001g0166 a0004c0005t0001g0167 a0004c0005t0001g0168 a0004c0005t0001g0170 a0004c0005t0001g0171 a0004c0005t0001g0180 a0004c0005t0001g0185 a0004c0005t0001g0188 a0004c0005t0001g0194 a0004c0005t0001g0195 a0004c0005t0001g0215 a0004c0005t0001g0220 a0004c0005t0001g0223 a0004c0005t0001g0226 a0006c0007t0001g0052 a0006c0007t0001g0273 a0006c0007t0001g0274 a0006c0007t0001g0283 a0006c0007t0001g0301 a0006c0007t0001g0302 a0006c0007t0001g0303 a0006c0007t0001g0304 a0006c0007t0001g0307 a0007c0011t0005g0318 a0007c0011t0005g0319 a0007c0011t0005g0320 a0007c0011t0005g0321 a0007c0011t0005g0322 a0008c0012t0007g0141 a0008c0012t0007g0209 a0010c0017t0011g0150 a0011c0019t0018g0125 a0012c0013t0001g0160 a0013c0015t0001g0325 a0014c0016t0011g0174 a0015c0021t0001g0263 a0016c0018t0001g0144 a0017c0023t0007g0208	209	328	0.6372	-339	c.198 others(19): Show c.1989+6181_1989+6519del	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FCHSD2_chr11_72831745_73147318	72957928	ATTATATA others(332): Show ATTATATAAACATAAATTATTTTAAAAAGTTAACATAAAAACCTATTCTT CATTTCTATTGAATGATAAATGTATACAATATCTGAATCTACAGATACAT ATATGTCTAAACACACGACTCTTACCTCACCATTTAACTACTTTAATGTA CTCTGTTGTAATCTTAAAATATTTTGGCTTCATTTCACATGAAAACCTCA GCAATAAGTGTTCCCACTATTTTACAAAGGGGAAAGATGGCTTGCTTTAA ATCAAGTCAGAGGAAAACCTTTGGAGCTAAGGACTAGAGTGCAAAAGTGA CAAGTTCTGGCCAGGTGCAGTGGCTCATACCTGTAATCCT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0150 a0001c0001t0008g0150	1	290	0.0035	-339	c.705 others(19): Show c.705+25821_705+26159del	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	8/19			chr11	TogoVar
FOXN1_chr17_28501348_28543900	28516703	ATACATAC others(332): Show ATACATACCTCCACAGGATCCACACCTCCACAGGGTACACACTTCCACAG GGTACACACCTCCACAGGATCCATACCTCAAAAGGGTACACATCTCCACA GGGTACACACCTCCACAGGATACACACCTCCACAGGGTACACACCTCCAC AGGGTACACAACTCCACTGGGTACACACCTCCACAGGATCCATACCTCCA CAAGGACACACCTCCACAGGGTACACACCTCCACAGGATCCATACCTCCA TAGGGTACACACCTCCGCAGGATCCATACCTCCACAGGGTACACACCTCC ACAGGATCCATACCATCACAGGGTACACGCCTCCACAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(171): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0001c0007 others(5): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013 a0002c0002 a0002c0006 a0002c0014 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0005t0010 a0001c0005t0011 a0001c0007t0001 a0001c0007t0013 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0006t0002 a0002c0006t0009 a0002c0014t0012 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0140 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0006g0001 a0001c0001t0006g0027 a0001c0001t0007g0193 a0001c0001t0008g0002 a0001c0001t0008g0194 a0001c0001t0020g0187 a0001c0001t0021g0183 a0001c0001t0022g0154 a0001c0001t0024g0028 a0001c0005t0010g0136 a0001c0005t0011g0061 a0001c0007t0001g0031 a0001c0007t0013g0156 a0001c0007t0013g0157 a0001c0013t0001g0001 a0002c0002t0001g0142 a0002c0002t0001g0199 a0002c0002t0002g0011 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0166 a0002c0002t0002g0198 a0002c0002t0003g0001 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0197 a0002c0002t0004g0008 a0002c0002t0004g0029 a0002c0002t0004g0138 a0002c0002t0004g0145 a0002c0002t0004g0160 a0002c0002t0004g0196 a0002c0002t0005g0008 a0002c0002t0006g0029 a0002c0002t0006g0137 a0002c0006t0002g0135 a0002c0006t0002g0164 a0002c0006t0002g0202 a0002c0006t0009g0058 a0002c0014t0012g0192 a0005c0009t0001g0167 a0005c0009t0001g0168 a0005c0009t0001g0169	174	356	0.4888	-339	c.-14 others(17): Show c.-14-7132_-14-6794del	FOXN1	ENSG00000109101.8	transcript	ENST00000579795.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FYB2_chr1_56713789_56824404	56776934	TAGAAAAT others(332): Show TAGAAAATAGAAGGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(340): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.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 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017	a0001c0001 a0001c0002 a0001c0009 others(23): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0012 a0001c0025 a0001c0027 a0002c0003 a0002c0007 a0003c0004 a0003c0005 a0004c0006 a0005c0008 a0006c0017 a0006c0023 a0007c0011 a0008c0019 a0008c0026 a0009c0015 a0010c0022 a0011c0021 a0012c0018 a0013c0024 a0014c0020 a0016c0014 a0017c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0009t0003 a0001c0010t0001 a0001c0012t0001 a0001c0025t0001 a0001c0027t0001 a0002c0003t0001 a0002c0003t0003 a0002c0007t0001 a0003c0004t0001 a0003c0005t0001 a0004c0006t0001 a0005c0008t0001 a0006c0017t0001 a0006c0023t0002 a0007c0011t0001 a0008c0019t0001 a0008c0026t0001 a0009c0015t0001 a0010c0022t0001 a0011c0021t0001 a0012c0018t0001 a0013c0024t0001 a0014c0020t0001 a0016c0014t0001 a0017c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(332): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0274 a0001c0001t0002g0299 a0001c0001t0002g0320 a0001c0001t0002g0328 a0001c0001t0002g0361 a0001c0001t0003g0017 a0001c0001t0003g0116 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0256 a0001c0001t0003g0313 a0001c0001t0003g0345 a0001c0001t0003g0355 a0001c0001t0004g0062 a0001c0001t0004g0132 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0276 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0039 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0090 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0114 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0209 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0248 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0314 a0001c0002t0001g0330 a0001c0002t0001g0334 a0001c0002t0001g0341 a0001c0002t0001g0347 a0001c0002t0001g0349 a0001c0002t0001g0357 a0001c0002t0001g0360 a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0140 a0001c0002t0002g0164 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0226 a0001c0002t0002g0253 a0001c0002t0003g0016 a0001c0002t0003g0309 a0001c0002t0003g0343 a0001c0009t0003g0083 a0001c0009t0003g0303 a0001c0009t0003g0344 a0001c0010t0001g0281 a0001c0010t0001g0282 a0001c0012t0001g0152 a0001c0012t0001g0295 a0001c0025t0001g0041 a0001c0027t0001g0246 a0002c0003t0001g0015 a0002c0003t0001g0020 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0117 a0002c0003t0001g0122 a0002c0003t0001g0125 a0002c0003t0001g0127 a0002c0003t0001g0308 a0002c0003t0001g0365 a0002c0003t0001g0368 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0050 a0002c0003t0003g0121 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0167 a0002c0003t0003g0231 a0002c0007t0001g0321 a0002c0007t0001g0369 a0002c0007t0001g0370 a0003c0004t0001g0187 a0003c0004t0001g0188 a0003c0004t0001g0243 a0003c0004t0001g0247 a0003c0004t0001g0294 a0003c0004t0001g0311 a0003c0005t0001g0109 a0003c0005t0001g0290 a0003c0005t0001g0300 a0003c0005t0001g0329 a0003c0005t0001g0339 a0003c0005t0001g0340 a0004c0006t0001g0118 a0004c0006t0001g0310 a0004c0006t0001g0358 a0004c0006t0001g0366 a0005c0008t0001g0006 a0005c0008t0001g0259 a0006c0017t0001g0262 a0006c0023t0002g0225 a0007c0011t0001g0239 a0007c0011t0001g0240 a0008c0019t0001g0053 a0008c0026t0001g0112 a0009c0015t0001g0076 a0010c0022t0001g0316 a0011c0021t0001g0348 a0012c0018t0001g0170 a0013c0024t0001g0325 a0014c0020t0001g0150 a0016c0014t0001g0128 a0017c0013t0001g0010	343	380	0.9026	-339	c.954 others(17): Show c.954-9335_954-8997del	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	4/19			chr1	TogoVar
G6PD_chrX_154526391_154551846	154528184	AAGAAAAA others(332): Show AAGAAAAAGAAAAAAAGAAAAAAAAAAAGAGTAAATTGTGGCCAGGTGCG GTGGCCCATGCCTGTAATCCCAGCACTTTGAGAAGCCTAGGCGGGTGGAT CACGGGGTCAAGAGATAGAGACCATCCTGACCAACATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCTGTGTGTGCTGGCGGGTGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGACCCCAGGTGG TGGAGGTTGCAGTGAACTGAGATCACGCCACTGCACTCCTGCACGCCAGC CTGGCGAAAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0043 a0001c0004t0003g0043	1	285	0.0035	-339	c.34 others(11): Show c.3477_*3815del	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding		3206		chrX	TogoVar
GTPBP6_chrX_299759_323796	309655	GTGCGGCC others(332): Show GTGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGG CAGGAAGGACCCTCACCTAGAGCCTCCAGAAGGAACTGGATCCAACTGAA GTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCAT CTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGT GATTAAGTGGAAGATCTGAAATGAGATCATCCTGGATTAGGGTGGACCCT AAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACA CAGAGAAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0005 a0010c0031t0005	a0010c0031t0005g0104 a0010c0031t0005g0104	1	155	0.0065	-339	c.112 others(19): Show c.1125+1425_1125+1763del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	310259	GTGTCCTT others(332): Show GTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGGAGGCC ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT CCAGAAGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT TTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAG ATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG02717.hp1 others(9): Show HG00741.hp1 HG02258.hp2 HG02717.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03942.hp2 NA18941.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA19057.hp2	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0011 a0012 a0014 a0017 a0019	a0001c0003 a0002c0005 a0002c0036 others(6): Show a0001c0003 a0002c0005 a0002c0036 a0007c0008 a0011c0014 a0012c0013 a0014c0023 a0017c0028 a0019c0026	a0001c0003t0001 a0002c0005t0001 a0002c0036t0001 others(6): Show a0001c0003t0001 a0002c0005t0001 a0002c0036t0001 a0007c0008t0001 a0011c0014t0001 a0012c0013t0001 a0014c0023t0001 a0017c0028t0005 a0019c0026t0001	a0001c0003t0001g0072 a0002c0005t0001g0079 a0002c0036t0001g0071 others(8): Show a0001c0003t0001g0072 a0002c0005t0001g0079 a0002c0036t0001g0071 a0007c0008t0001g0011 a0007c0008t0001g0021 a0007c0008t0001g0023 a0011c0014t0001g0007 a0012c0013t0001g0146 a0014c0023t0001g0075 a0017c0028t0005g0078 a0019c0026t0001g0048	12	155	0.0774	-339	c.112 others(18): Show c.1125+821_1125+1159del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
HBS1L_chr6_134955378_135059822	134966595	GAAAAATA others(332): Show GAAAAATATTTTTTGAATGAAAATATATGTCTTTGGACTTTCTGCTTTAG TTGAAAGAAATGAGGAGTAATTCTAGATTTAAGAAACATTAGGTAGTTCA TTTTTACCAATCTTCCAAATATAACTCTATCCCTTACGGGACCACTATAG CCTAAAATGCTTAAGGCCCCTCATCATGAAATAAATGCTTTTTCTTTCAT TCCCTCAAGAAAGTGAGTTCAATTATCTAATAAAGAAAGTTATACTAAGG CTTATTTCTATAAAAAAGTATTTGCAAAGAGGAATATAATGCCCTATGTC TTTCCTAGTAAAACTGTAATTTATGGAATGTGTATTAGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02257.hp1 others(8): Show HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 a0001c0001t0029 a0001c0001t0048 a0001c0015t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0024g0052 a0001c0001t0024g0053 a0001c0001t0029g0044 a0001c0001t0048g0051 a0001c0015t0001g0079	11	348	0.0316	-339	c.189 others(17): Show c.1899-461_1899-123del	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	16/17			chr6	TogoVar
ITGAV_chr2_186585056_186685901	186593355	ATGTTAAG others(332): Show ATGTTAAGGCGGCCCCTCAAAAAATCACTCCAGAAATGAGTCAGGTTCGA AGTAAAAATTCACAAATATAGTGATTTTCAAAATTATGAAAAAACATTCG CATTCTGTTTTTTTTTCTATAAGCATTTATTTATGCTATGTTGTAAAACT TACATAAAATTTAAAGATTGTATGCAGGCTAATAATTAGAGTCATACTTT TCTTGTGGAGACTAATTGGAAAAATTAAAAATTACATCCTAGGTTTAATT ATAATGATGACATCTTATTTTGGTAAACATATTTTATAATTTGCTAAGCA CTTATATCTCATTTCATTCTATAGCCCACACCACCGGGGG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	308	0.0033	-339	c.185 others(17): Show c.185+2833_185+3171del	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	1/29			chr2	TogoVar
MAGEA2_chrX_152744863_152758842	152748965	CAGAAAAG others(332): Show CAGAAAAGCACCTGGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01168.hp1 others(15): Show HG00280.hp1 HG00741.hp1 HG01168.hp1 HG01256.hp1 HG01346.hp1 HG02071.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG03130.hp1 NA18942.hp2 NA18944.hp1 NA18950.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 a0002c0003t0001	a0001c0001t0001g0036 a0001c0001t0008g0032 a0002c0002t0002g0004 others(3): Show a0001c0001t0001g0036 a0001c0001t0008g0032 a0002c0002t0002g0004 a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0038	18	191	0.0942	-339	c.11 others(11): Show c.1115_*1453del	MAGEA2	ENSG00000268606.6	transcript	ENST00000684311.1	protein_coding		897		chrX	TogoVar
MYZAP_chr15_57586904_57690364	57688052	TATAATAT others(332): Show TATAATATGTGTGTACAATATACACATATATATGTGTGTACAATATACAC ATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACAC ATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACAC ATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACAC ATATATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATAC ACATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTA CAATATACACATATATATAATATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	352	0.0028	-339	c.35 others(11): Show c.3555_*3893del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2689		chr15	TogoVar
NEU4_chr2_241804193_241822413	241805464	GACCTCCG others(332): Show GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	319	0.0031	-339	c.-38 others(11): Show c.-3813_-3475del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3728		chr2	TogoVar

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Search Results (Total: 10000 hits)