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
GTF2F1_chr19_6374572_6398164	6387606	GCCCCCCC others(551): Show GCCCCCCCGTGTCCCCCCGGGGCCTGCCTCCTTTATGGCACTTGCCATAG GAGGAAGACCAAGAAATGCCCATGAGGCCTGGGCAGGCCCTTCAACCACC TGGGCCTCGTCAATTTCCACATCTGGGGAACAGGGCCGGCGCACCTACCC TGCAAAGTGCTGGGCGTGTGCACATCGGGATCATTTCTGGAAAGACTGTG TGAGATTATCTCAGGAGAGCCCAACCCTGCAGTCAAACTGTCTACATTTG CCTCCAGCTCTGCTATCTGTGGGCCACACCCGGGAAACTGAGGAGCCAAG TGAGAAGATGGGGCGGGAAGGCATGGCCAAATTTTTTTTTTTGAGATGGA GTCTCGCTCTGGCACCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCAC TGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGTGTCTGCCACCACACCCAGCTAATTTTTGTAG TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTTTCGAACCC CTGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG02148.hp2 others(2): Show HG00280.hp1 HG00733.hp2 HG02148.hp2 HG02300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 others(2): Show a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0170	5	378	0.0132	-558	c.327 others(14): Show c.327-605_327-48del	GTF2F1	ENSG00000125651.14	transcript	ENST00000394456.10	protein_coding	4/12			chr19	TogoVar
IRF2BP1_chr19_45878608_45891141	45879954	GCCACTGC others(551): Show GCCACTGCACTCCAGCCTGGGTGACAGAGAGCAAGACTCTGTCTCAAAAA ATATAAAAAACAAAATTCAAAGTCCTTATCACAGTGTACAGGTCCTCTTA CTGCTCCCCCACCATCCCTCTGATTCAATTTCCTACTACTGTCCCCCAGC ACTGGTCACCTGGTTGCTTCTGGGACAAACCAAGCAGGCTCCCACCTCAG GACCTTTGCAGGTGCTATTTACACAGATTTCTGCTGGCTTACTCCCTCCC CTCCTTCAGTTCTTAGTGTCACGTGCTCAGTGAGCTCTTCCCTACATCCC TTTCTAAAATAGCAACCCCAACTGGACACGGTATCTCATGCCTGTAATCC CAGCACTTTGGGAGGCTGAAGCAGGCAGATCACATGAGGTCAGGAGTTTG AGATCAGCCTGGCCAACATGGTCAAACCCCATCTCTACTAAAGATACAAA AATTAGCCAGGCATGGTGGTGCGTGCCTCTAGTCCCAGCTACCCGGGAGG CTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCT GGGATCGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	416	0.0024	-558	c.35 others(11): Show c.3508_*4065del	IRF2BP1	ENSG00000170604.5	transcript	ENST00000302165.5	protein_coding		3653		chr19	TogoVar
LYPD8_chr1_248734415_248760759	248747462	GCCCGCAC others(551): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCC ACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG CACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCC CCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGC ATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCA CCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCC GCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCC AGGGCATCC	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	374	0.0027	-558	c.337 others(15): Show c.337+269_337+826del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31510830	AACATACA others(551): Show AACATACATATGTATATCTATATGTAACATATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATGTA TATCTATATGTAACATATGTATATCTATATGTAACATACATGTATATCTA TATGTAACATACATGTATATCTATATGTAACATACATATATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACACACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATACATATGTATATCTATATGTAACACACATA CATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACACATATATATGTATATCTATATGTAACACACATATATATGTATATCT ATATGTAAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0240 a0002c0005t0016g0240	1	244	0.0041	-558	c.894 others(17): Show c.894-7570_894-7013del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(551): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACA CATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 NA18906.hp2 others(4): Show HG02922.hp1 HG02976.hp1 NA18906.hp2 NA18989.hp1 NA18990.hp1 NA19083.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0056	a0001c0001t0004g0179 a0001c0001t0012g0006 a0001c0001t0012g0007 others(4): Show a0001c0001t0004g0179 a0001c0001t0012g0006 a0001c0001t0012g0007 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0013g0155 a0001c0001t0056g0045	7	244	0.0287	-558	c.894 others(17): Show c.894-7835_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PKP3_chr11_389209_409908	402027	CCCCGCTC others(551): Show CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCT CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACC CCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCT CACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA CCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCG CTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTC ACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCC GCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0196 a0001c0008t0001g0196	1	216	0.0046	-558	c.173 others(18): Show c.1738-1047_1738-490del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(551): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18906.hp2 HG02055.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0096 a0001c0002t0007g0194 a0001c0002t0001g0096 a0001c0002t0007g0194	2	340	0.0059	-558	c.915 others(17): Show c.915+1169_915+1726del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090854	AGTACCTA others(551): Show AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03471.hp2 HG01167.hp2 HG01169.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0120 a0001c0001t0009g0127 a0001c0001t0009g0128 a0001c0001t0009g0120 a0001c0001t0009g0127 a0001c0001t0009g0128	3	340	0.0088	-558	c.915 others(17): Show c.915+1199_915+1756del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(551): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0335 a0001c0001t0015g0335	1	340	0.0029	-558	c.915 others(17): Show c.915+2003_915+2560del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(551): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG01069.hp2 others(26): Show HG00140.hp2 HG00423.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02132.hp1 HG02698.hp1 HG02922.hp2 HG03239.hp1 HG03834.hp2 HG04199.hp1 NA18941.hp2 NA18969.hp1 NA18980.hp2 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19010.hp2 NA19058.hp2 NA19064.hp2 NA19068.hp2 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0004c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0037 others(26): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0182 a0001c0001t0001g0211 a0001c0001t0001g0250 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0338 a0001c0001t0002g0301 a0001c0001t0005g0137 a0001c0001t0005g0141 a0001c0001t0005g0166 a0001c0001t0005g0274 a0001c0002t0002g0069 a0004c0006t0001g0087	29	340	0.0853	-558	c.915 others(17): Show c.915+3015_915+3572del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092869	CGCGCCTA others(551): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG AACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp2 HG02300.hp2 others(1): Show HG01361.hp2 HG01993.hp2 HG02300.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0085 a0001c0001t0001g0165 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0165 a0001c0001t0001g0199 a0001c0001t0008g0317	4	340	0.0118	-558	c.915 others(17): Show c.915+3243_915+3800del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093024	CGCGCCTA others(551): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	340	0.0029	-558	c.915 others(17): Show c.915+3553_915+4110del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168572085	CGTGCTCC others(551): Show CGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCAT CTCCGGGTGCCGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCACT TCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAAC GCAATGTTCACTTTCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGTG TGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCGGG ACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCC CCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACTTC CTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGC GATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTG CTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGAC CAGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03490.hp2 HG03492.hp2 others(1): Show HG02559.hp2 HG03490.hp2 HG03492.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 a0001c0001t0001 a0001c0001t0003 a0001c0004t0005	a0001c0001t0001g0170 a0001c0001t0003g0106 a0001c0001t0003g0107 others(1): Show a0001c0001t0001g0170 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0004t0005g0049	4	180	0.0222	-558	c.637 others(19): Show c.637+22930_637+23487del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246251518	CGCCCGGC others(551): Show CGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTG CCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGG CTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGA CACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGT AGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTG CCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCC GCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCT TTAGTACGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACA CTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAG GTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCC CGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGC GGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 HG02109.hp1 others(4): Show HG01175.hp2 HG01981.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0001t0002g0023 others(4): Show a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0009t0001g0002 a0002c0003t0001g0105	7	150	0.0467	-558	c.531 others(19): Show c.531+75125_531+75682del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TAF4_chr20_61969798_62070881	61970754	GGCATTCA others(551): Show GGCATTCAGCTTCATCACTGCATCACACACCAGGCAGACGTGCGTTCAAC ACTGGGTAGACGGGCATTCAGCTTCATCACTGCATCACACACCGGGCAGA CGTGCGTTCAACACTGGGTAGACGGGCATTCAGCTTCATCACTGCGTCAC ACACCGGGCAGACGTGCATTCAACACCGGTTAGACGGGCATTCAGCTTCA TCACTGCGTCACACACCGGGCAGACGTGCATTCAACACCGGTTAGACGTG CATTCAGCTTCATCACTGCATCACACACCGGGTAGACGTGCATTCAACAC TGGGTAGACGGGCATTCAGCTTCATCACTGCATCACACACCGGGCAGACG TGCGTTCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGCATCACAC ACCGGGTAGACGTGCATTCAACACTGGGTAGACGTGCATTCAGCTTCATC ACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGGTAGACGTGCA TTCAGCTTCATCACTGCGTCACACACCGGGCAGACGTGCATTCAACACTG GGTAGACGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	314	0.0032	-558	c.48 others(11): Show c.4856_*5413del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding		4043		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945060	CTTCTCAC others(550): Show CTTCTCACCGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCAACGATGAGGAGCATCGCGGCTGTCTGCACCATGGGAGCCC CTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACCGTGGCCACGC CTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACTGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCC CTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCC TTTCTGACTGATGATAAGGAACATTGCGACTGTCTGCACCGTGGCTGCCC CTTCTCACCAACGCTGAGGAGCACTGCAACCATCTGCACCGTGGCCGCCC CTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCC CTTCTCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0045 a0003c0018t0045	a0003c0018t0045g0052 a0003c0018t0045g0052	1	106	0.0094	-557	c.81 others(11): Show c.8118_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4444		chr20	TogoVar
FOXQ1_chr6_1307098_1319758	1319201	TGGTGGCG others(550): Show TGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTT GGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCC TGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGG GCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG TGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAA ACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACG CCTGTAAT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01175.hp1 others(5): Show HG00621.hp2 HG00673.hp1 HG01175.hp1 HG02809.hp2 NA18971.hp1 NA18987.hp2 NA19070.hp2 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0001 a0001c0001t0002 a0004c0003t0001	a0001c0001t0002g0000 a0004c0003t0001g0000 a0001c0001t0002g0000 a0004c0003t0001g0000	8	406	0.0197	-557	c.52 others(11): Show c.5286_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4444		chr6	TogoVar
MYOM2_chr8_2040046_2150456	2085519	CCCACTGT others(550): Show CCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGC CCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTT GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0032 a0032	a0032c0071 a0032c0071	a0032c0071t0001 a0032c0071t0001	a0032c0071t0001g0121 a0032c0071t0001g0121	1	403	0.0025	-557	c.164 others(17): Show c.1644+130_1644+686del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085552	CATGATCT others(550): Show CATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGT CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCC CACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCC CCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp1 NA18940.hp1 others(8): Show HG02027.hp2 HG02080.hp1 NA18940.hp1 NA18944.hp1 NA18946.hp1 NA18970.hp1 NA18972.hp1 NA18993.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0008 a0010 a0015 a0023 a0082	a0001c0002 a0001c0145 a0005c0005 others(6): Show a0001c0002 a0001c0145 a0005c0005 a0006c0013 a0008c0008 a0010c0056 a0015c0209 a0023c0021 a0082c0111	a0001c0002t0002 a0001c0145t0002 a0005c0005t0001 others(6): Show a0001c0002t0002 a0001c0145t0002 a0005c0005t0001 a0006c0013t0005 a0008c0008t0001 a0010c0056t0002 a0015c0209t0004 a0023c0021t0001 a0082c0111t0002	a0001c0002t0002g0371 a0001c0145t0002g0364 a0005c0005t0001g0297 others(8): Show a0001c0002t0002g0371 a0001c0145t0002g0364 a0005c0005t0001g0297 a0005c0005t0001g0317 a0006c0013t0005g0167 a0008c0008t0001g0178 a0008c0008t0001g0179 a0010c0056t0002g0159 a0015c0209t0004g0161 a0023c0021t0001g0355 a0082c0111t0002g0353	11	403	0.0273	-557	c.164 others(17): Show c.1644+163_1644+719del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085562	GCGTGGCC others(550): Show GCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCT GCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGAT CTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTG ATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGT GATCTCTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0006 a0002c0097t0006	a0002c0097t0006g0050 a0002c0097t0006g0050	1	403	0.0025	-557	c.164 others(17): Show c.1644+173_1644+729del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
NUP35_chr2_183119443_183166680	183124916	GTGTGTGG others(550): Show GTGTGTGGGTGCAGTCCACTGCTTCTTGATCACCGGTGCTTCCAGTTCCT GTTTTGACTCCTCTCTCCCGGGCTTTGCCAAAGGAATCTTGTTATTAATG GAAGCTTGAATCGTGCAACATTTAATCAACCGTGTGGTTGGTAATCATTG AGATATTGACCTTAACAGCAAGCTAGGAGTTCGCACGATATTTCCCGCCT TTATTTGGGGAAAGTGACTCTTAAGTATTGTAGGAGGTATTTTTCTCTAG TAAGTCACGATCTGAATTTTTTTAAAGATTCATTCCCATTATTCATTGCG GAGCCTCGTTGAAATATGTCGTCTTTGAAAAAAATCTACCACTTTAACAG CACGCGGATTTCTTTTTTTCCTGCTGAGTTTTGCGACTTGTGAGAATCGT CGAAAATTTTAGAACGGAAAATAAACCGTCTTACTGTCATAGAGACTTAC CTGAAAAGTTAGGTTATAACTTTCTGAGCTTGGAAAAGAGAGCAAATGTA ATATATATGGTGTGGAAAGAGTCTTTAGATTTGAAGGGTATGTAATGCTT GCCATGTT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	402	0.0050	-557	c.40+ others(13): Show c.40+422_40+978del	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCMT1_chr6_149744741_149816419	149762725	TATATCTA others(550): Show TATATCTATGATATATATATATCTATGATATATATACCTATGATATATAT ATACCTATGATATATATACCTATGATATATATATCTATGATAATCTATGA TATATATGATATATATATCTATGATATATATCTATGATATATATATCTAT GATATATATGTTATATATATCTATGATATATATCTATGATATATATATCT ATGATATATATGATATATATATCTATGATATGTATATCTATGATATATAT GATATATATATCTATGATATATATGATATATATATCTATGATATATATGA TATATCTATGATATCTATGATATGTATATCTATGATATATATATCTATGA TATGTATATCTATGATATATATGATATATATATCTATGATATGTATATCT ATGATATATATGATATATATATCTATGATATATATCTATGATATCTATGA TATATATCTATGATATCTATGATATATATATCTATGATATCTATGATATA AATATCTATGATATCTATGATATATATATCTATGATATCTATGATATAAA TATCTATG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03453.hp2 others(1): Show HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210	4	334	0.0120	-557	c.56- others(15): Show c.56-8417_56-7861del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RASA4_chr7_102574646_102621756	102590922	AAAAGCGA others(550): Show AAAAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAATGGGACCAGAATTA AATAATGCCCATGTAGTCAAATCTTTCAACCCTGGCAAGGAAGATGTATA ATAATCATCTGAGTGCTTTGGGAGGCTGGGGCAGGAGGATTGCCTGAGGC CAGGAGTTTGAGAACAGCCTGGGCAGCATAGCAAGACCCCATCTCCGCAA AAAAAAAAGTTAAAGAAAATTAGCTGGGCTTGGTGGCACGTGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGTAGGAAGATTGCTTGAGCCCAGGAGTT TGAGGCTGCGGTCAGCTATGATCGCACCACTGCACTACAGCCTGGGTGAC AGAGCAAGACCCTGTCTCAAAAAATAATTATCATCATCTGAGGGGTCTTT GGTCGGAAGGGGCGGGCCCCTCATCTGGTGGGACCCCTGAGCTGGTTGAG AACAGGGTGGGTGATGAGCTCCTTCACCTACTCCTAGCCCGCTCTCACCT GCCCAGGGCTAGGCTGGGTACTCCTGGAAGATCATCCCCATAGCCTGCAT GACTGGGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0020 a0020	a0020c0062 a0020c0062	a0020c0062t0049 a0020c0062t0049	a0020c0062t0049g0127 a0020c0062t0049g0127	1	130	0.0077	-557	c.183 others(17): Show c.1830+806_1831-627del	RASA4	ENSG00000105808.19	transcript	ENST00000262940.12	protein_coding	16/20			chr7	TogoVar
ZNF516_chr18_76352682_76500242	76394265	AGGTGGTC others(550): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0240 a0001c0001t0038g0240	1	346	0.0029	-557	c.181 others(21): Show c.1811-14519_1811-13963del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
GALNT9_chr12_132191372_132334589	132298691	CCTGAGAT others(549): Show CCTGAGATAACCAAGCCACTGCTGAGATAACCCACTCCCATGATAACTAA CCCACTCCCACCACACCTAACCCACCCCCAACACACCTAACCCATCCCTG AGATAACCAACCCACTCCTGAGATAACTCACACCCATAACTAACCCACTC TCACCACACCTAAACCATCCCTGAGATGACCAAGCCACTCCTGAGATAAC CCACTCTCATAACTAACCCACTGCCACCACACCTAACCCATCCCAGAGAT AAACAACCCACTCCTGAGATAAATCACTCCCATAACTAACCCACTCGGAC CACACCTAACCCATCCCTGAGATGACCAAGCCACTCCTGAGATAACTCAC TCCCATACCTCACCCACTCCCACCACACCTAACCCACCCGAGATAACCAA GCCACTGCTGAGATAACCCACTCCCATGATAACTAACCCACTCCCACCAC ACCTAACCCACCCCCAACACACCTAACCCACCCCTGAGATAACCAACCCA CTCCTGAGATGACTCACTCCCATAACTAACCCACTCCCACCACACCTAAC CATACCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0176 a0001c0008t0002g0176	1	183	0.0055	-556	c.239 others(19): Show c.239-12817_239-12262del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
MLPH_chr2_237482251_237560322	237544083	GGTGGTGA others(549): Show GGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTG GGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGT GGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTCGGGGGACAGTGGTGA ATGGGCACGGTAGTGAGTGGGGGGACAGTAGTGAGTGGGGACAGTGGTGA GTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACA GTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGG GGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATT GGGCACT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	286	0.0035	-556	c.153 others(19): Show c.1539+1427_1540-1965del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PAPPA2_chr1_176458175_176850601	176509081	TAAGTAGA others(549): Show TAAGTAGAGAATATGTGATGCACTATTTAATCAGAGGTCAGATGAGAAGT GGCTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAA TCATTTCCCACGAGGTCACTCCCCCAACATGTGAGGATGACAATTTGATA TGAGACTTGGGTGGGAACACAGAGCCACACCATATCATCTAACATATATA TATGTCAGACTGCTTGAAATTTTTCCAAAAGCCATTGTATTAGTCCGTTT TCACACTGCTATAAAGAACTACCTGAGACTGAGTAATTTATTTTTTAAAA AAAAGGTCTAATTGATTCACAGCTCCACATGGCTGAGGAAGCCTCAGGAC ACTTATGATCATGGCAGAAGATGATGGCGAAGCAAGGCACATATTCCATG GCAGCAGGAGGGAGAGGGTGAAGGGGGACAGTGTTACACTTTTAAACAAA ATGATCTCATAAGAACTCACTCACTATCATGAGAACAGCAAGGGAGAAAT CCACCCCCATGATTCAATCATTTCCCACGAGGTCGCTCCCCCAACATGTG AGGATGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(114): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18949.hp1 NA18949.hp2 NA18991.hp1 NA18991.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0011 a0001c0015 a0002c0004 a0002c0017 a0003c0005 a0004c0008 a0005c0010 a0006c0013 a0007c0012 a0008c0014 a0009c0016 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0028 a0001c0002t0035 a0001c0002t0036 a0001c0002t0042 a0001c0003t0003 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0006t0002 a0001c0006t0005 a0001c0006t0033 a0001c0009t0001 a0001c0011t0043 a0001c0015t0008 a0002c0004t0005 a0002c0004t0014 a0002c0004t0016 a0002c0004t0038 a0002c0017t0019 a0003c0005t0009 a0003c0005t0022 a0004c0008t0003 a0005c0010t0001 a0006c0013t0007 a0007c0012t0004 a0008c0014t0005 a0009c0016t0008 a0010c0007t0002	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0043 others(114): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0002g0010 a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0004g0029 a0001c0001t0004g0077 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0004g0116 a0001c0001t0005g0008 a0001c0001t0005g0030 a0001c0001t0005g0047 a0001c0001t0005g0109 a0001c0001t0006g0078 a0001c0001t0006g0081 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0098 a0001c0001t0007g0079 a0001c0001t0007g0084 a0001c0001t0007g0092 a0001c0001t0010g0019 a0001c0001t0010g0106 a0001c0001t0010g0113 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0011g0067 a0001c0001t0012g0074 a0001c0001t0012g0105 a0001c0001t0013g0044 a0001c0001t0013g0062 a0001c0001t0017g0016 a0001c0001t0017g0107 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0020g0012 a0001c0001t0021g0071 a0001c0001t0023g0115 a0001c0001t0024g0037 a0001c0001t0025g0085 a0001c0001t0026g0036 a0001c0001t0027g0118 a0001c0001t0031g0117 a0001c0001t0034g0095 a0001c0001t0037g0018 a0001c0001t0039g0108 a0001c0001t0040g0022 a0001c0001t0041g0053 a0001c0001t0044g0034 a0001c0001t0045g0065 a0001c0001t0046g0101 a0001c0001t0047g0017 a0001c0001t0048g0112 a0001c0001t0049g0026 a0001c0001t0050g0048 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0008g0013 a0001c0002t0008g0046 a0001c0002t0015g0005 a0001c0002t0015g0114 a0001c0002t0016g0068 a0001c0002t0028g0003 a0001c0002t0035g0021 a0001c0002t0036g0015 a0001c0002t0042g0038 a0001c0003t0003g0041 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0060 a0001c0003t0003g0075 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0029g0080 a0001c0003t0030g0069 a0001c0003t0032g0057 a0001c0006t0002g0061 a0001c0006t0005g0035 a0001c0006t0033g0032 a0001c0009t0001g0001 a0001c0011t0043g0089 a0001c0015t0008g0093 a0002c0004t0005g0014 a0002c0004t0014g0031 a0002c0004t0014g0042 a0002c0004t0016g0025 a0002c0004t0038g0023 a0002c0017t0019g0004 a0003c0005t0009g0011 a0003c0005t0009g0028 a0003c0005t0009g0094 a0003c0005t0022g0111 a0004c0008t0003g0100 a0005c0010t0001g0063 a0006c0013t0007g0110 a0007c0012t0004g0096 a0008c0014t0005g0045 a0009c0016t0008g0027 a0010c0007t0002g0088	117	118	0.9915	-556	c.-91 others(21): Show c.-917+45666_-916-45768del	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122309	AGGGTCGT others(549): Show AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGT TAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGG TTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGTT AGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGT GGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT TGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0012 a0001c0002t0011g0012	1	286	0.0035	-556	c.335 others(19): Show c.335-12951_335-12396del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAP1GAP2_chr17_2791438_3042741	3031505	GTCCCTTT others(549): Show GTCCCTTTCTGAGCTCGCCAGACTATGGAGAACTCCAGGTCCAGATGTGA GGTGGGAAGGGCTGGTTCCTGGGTCCCGAATCCCTTCCTGAGCTCACCAG ACTATCAAGAGCTCCAGGTCCAGATGTGAGGTGAGAAAGGCTGGTTCCTG GGTCCCCCAGTCCCTTTCTGAGCTCGCCAGACTATCGAGAACTCCAGGTC CAGATGTGAGGTGGGAAGGGCTGGTTCCTGGGTCCCGAATCCCTTCCTGA GCTCACCAGACTATCGAGAGCTCCAGGTCCAGATGTGAGGTGGGAAGGGC TGGTTCCTGGGTCCCCCAGTCCCTTCCTGAGCTCTCCAGACTATCGAGAG CTCCAGGTCCAGATGTGATGTGGGAAGGGCTGGTTCCTGGGTCCCGAATC CCTTCCTGAGCTCACCAGACTATCGAGAGCTCCAGGTCCAGATGTGAGGT GGAAGGTGCTGGTTCCTGGGTCCCCCAGTCCCTTCCTGAGCTCTCCAGAC TATCGAGAGCTCCAGGCCCAGTTGTGAGGTGGGAAGGGCTGGTTCTTGGG TCCCGAA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0049 a0001c0001t0096g0049	1	218	0.0046	-556	c.218 others(17): Show c.2184+514_2185-344del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5731358	GTTTATTT others(549): Show GTTTATTTAGCTAGCTGCCAAGCTAGACTGATGAACAGATCATGTTTTCC TATGAACAGACTCTCTTCACACAAAACCCACTAGCTTTGTCTATTATCAC CATGAAATACTTCCAAAGTAAGGCTATATAGAGTGAGATAACACACACTG ATGTATCACCACCCAGACCCAACACATGTTAACTATCCAGGCTCTTCACA GTCAAATCAGACAACCACCTTGGAACAACTGCACAGTAGTGCAGACAGAG TGGGTGGGGTACAGCTCTAGCCACATTCAGTAGCAAGGAAGCTTCTTTGC TCGGAGGGTAATGGGGACTTCCCCTTTTCTCTGTTCTTTCTCTTGCTCCA GTAGATTTCTAAGATGACCTCCTAGGTGCTATACCTGCAGTTCTCACACA CTTCCCTTTCTACTGGTTCTCTTTTGCCAGATGTCAATAGTAAGGCCTGT AATAGTAGAACAGGAGGTCTGGCAGAAAGAGGGTAGAGAAAAAGTGCTCA GCTCTGCTCCTTTTCTCATCCAGGTGCCAGTGTTTGGGGACCGGTTTGGA GAGGTTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02257.hp1 others(7): Show HG01081.hp1 HG01884.hp2 HG02257.hp1 HG02258.hp1 HG02895.hp1 HG02922.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0004 a0002c0010 others(2): Show a0001c0001 a0001c0004 a0002c0010 a0006c0019 a0007c0020	a0001c0001t0007 a0001c0001t0028 a0001c0004t0007 others(4): Show a0001c0001t0007 a0001c0001t0028 a0001c0004t0007 a0001c0004t0031 a0002c0010t0009 a0006c0019t0045 a0007c0020t0029	a0001c0001t0007g0152 a0001c0001t0028g0070 a0001c0004t0007g0149 others(7): Show a0001c0001t0007g0152 a0001c0001t0028g0070 a0001c0004t0007g0149 a0001c0004t0007g0150 a0001c0004t0007g0151 a0001c0004t0031g0188 a0002c0010t0009g0157 a0002c0010t0009g0158 a0006c0019t0045g0159 a0007c0020t0029g0243	10	274	0.0365	-556	c.112 others(18): Show c.1122-1097_1122-542del	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	5/16			chr7	TogoVar
TMEM41B_chr11_9275654_9319593	9282115	TGCCTGTA others(549): Show TGCCTGTAATCCCAGCACTTTGGGAGGTGGAAGTGGGCATATAGCCTGAG GTCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTAC TAAAAACACAAAAATTAGCTGGGCACGGTGGCACACACCTGTAATCCCAG CTACTCAGGAGGCTGGGCCAGGAGAATCGCTTGAACCCAGGAGGCGGAGT TTGCAGTGAGCCGAGATCACACCACGCACTCCACTCCAGCCTGGGCAACA GCAAGACTCCGTCTCAAAAAAAAAAAAAATTATCAATACCAAATATGATA CAGTTATGTAATACCCATTTTGCATATGCACAGTGGAAATACTGTAAAAA CTACAAGATGAAAGAAAACCGACTGGCCAGAACTTTAAATTTCAGACTAA TCCATGATAAAAATCTAGATGATAAAAAACAAAAATAAAATTAACAAAAT AGATAACTTGATATCCTTTCCATATTCAGTCGTCTACTAACATGCCATCT CCAAACAAATCCATTACCTCAAAAGAGGAAGAAAATGGGCCAGGCGCGGT GGCTCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02622.hp1 HG01346.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0261 a0001c0006t0019g0262 a0001c0006t0019g0261 a0001c0006t0019g0262	2	370	0.0054	-556	c.75 others(10): Show c.753_*1308del	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	7/7	753		chr11	TogoVar
AHRR_chr5_316714_443285	391572	GGGCAGGG others(548): Show GGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGA CACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGG GCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGC AGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAG GGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACG GGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG ACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAAC ACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTG CACGGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0037 a0004c0003t0037	a0004c0003t0037g0223 a0004c0003t0037g0223	1	268	0.0037	-555	c.351 others(19): Show c.351+14857_351+15411del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(548): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18939.hp2 NA18975.hp2 others(5): Show HG02523.hp1 NA18939.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA19005.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0117 a0001c0001t0001g0119 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0173	8	406	0.0197	-555	c.806 others(14): Show c.806+93_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1888909	TGTGAGGA others(548): Show TGTGAGGAGACAGTGGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGGT GAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCAC GGAGTGCAGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATGA GGAGACAGTGATTGGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGTG TGAGGGGTCTGTGAGGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGAGA CGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGGAG ACACTGAATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGGATGAGAGGT GTGAGGAGACACTGAATGTGGTGAGGGTTTGTGAGGAGATACTGCATGGG GTGAGCTTTCTTAGGAGACACTGAGTGGGTAAGAGTTGTGAGGAGACACT GAGTGGGGTGAGGGGTATGTGAGGAGACAGTGATGTGAGGCATCTGTGAG GAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGA GGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG03540.hp1 others(3): Show HG00597.hp1 HG00673.hp2 HG03540.hp1 NA18962.hp2 NA19002.hp1 NA19084.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0001c0020 a0001c0021 others(2): Show a0001c0004 a0001c0020 a0001c0021 a0001c0050 a0006c0134	a0001c0004t0002 a0001c0020t0008 a0001c0020t0016 others(3): Show a0001c0004t0002 a0001c0020t0008 a0001c0020t0016 a0001c0021t0005 a0001c0050t0006 a0006c0134t0005	a0001c0004t0002g0251 a0001c0020t0008g0315 a0001c0020t0016g0092 others(3): Show a0001c0004t0002g0251 a0001c0020t0008g0315 a0001c0020t0016g0092 a0001c0021t0005g0312 a0001c0050t0006g0127 a0006c0134t0005g0316	6	363	0.0165	-555	c.118 others(19): Show c.1182+3203_1182+3757del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28			chr8	TogoVar
ATP11A_chr13_112685038_112892168	112766810	ACTGTGGG others(548): Show ACTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGC TGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCAC TGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGG TGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTG TGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATC GGGGGCCCCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCT GTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTG GGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG GGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGG GGGCCC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp1 HG02809.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0032 a0001c0002t0014 a0001c0002t0032	a0001c0002t0014g0197 a0001c0002t0032g0179 a0001c0002t0014g0197 a0001c0002t0032g0179	2	254	0.0079	-555	c.40- others(17): Show c.40-18306_40-17752del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112766867	GGGTGTGG others(548): Show GGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGGG TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGC CCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGGA AGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAG ATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGT GCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGCC CCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAA GGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGT TGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCC TGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGG TGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0070 a0001c0006t0001g0070	1	254	0.0039	-555	c.40- others(17): Show c.40-18266_40-17712del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(548): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18952.hp1 HG01109.hp1 NA18952.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0006 a0002c0004 a0003c0006	a0002c0004t0001 a0003c0006t0002 a0002c0004t0001 a0003c0006t0002	a0002c0004t0001g0179 a0003c0006t0002g0139 a0002c0004t0001g0179 a0003c0006t0002g0139	2	248	0.0081	-555	c.226 others(19): Show c.2267+4773_2268-4449del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(548): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0223 a0002c0001t0002g0223	1	248	0.0040	-555	c.226 others(19): Show c.2268-3960_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCC_chr18_52335197_53540899	53085989	CTCCTTCT others(548): Show CTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTT CTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCT TCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04228.hp2 NA19043.hp1 HG02602.hp2 HG04228.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0022 a0004c0009 a0001c0003 a0002c0022 a0004c0009	a0001c0003t0012 a0002c0022t0024 a0004c0009t0027 a0001c0003t0012 a0002c0022t0024 a0004c0009t0027	a0001c0003t0012g0082 a0002c0022t0024g0031 a0004c0009t0027g0084 a0001c0003t0012g0082 a0002c0022t0024g0031 a0004c0009t0027g0084	3	114	0.0263	-555	c.126 others(21): Show c.1261+19825_1261+20379del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DGKB_chr7_14140049_14907751	14211875	TTTTACTC others(548): Show TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTT GTGATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0125 a0001c0009t0009g0125	1	148	0.0068	-555	c.212 others(21): Show c.2123-34279_2123-33725del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805485	CTCCCCCC others(548): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	314	0.0032	-555	c.13 others(11): Show c.1320_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1199		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132290770	ACCACAGC others(548): Show ACCACAGCACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCAC AGCACCCACGTCCACAGCGCACACGTCCACAGCACCCACAACCACAGCGC CCACGTCCACATCACCCACATCCACAGCACCCACGTCCACAGCACCCACA TCCAGAGCACCCACGTCCACACCACCCACATCCACAGCGCCCACATCCAC AGCACCCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCAC CCACATCCACAGCGCCCACGTCCACAGCGCCCACATCCTCAGCACCCACA ACCACAGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCAC AGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCACAGCAC CCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCACCCACA TCCACAGCGCCCACGTCCACAGCGCCCACGTCCTCAGCGCCCACAACCAC AGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCACAGCAC CCACAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	183	0.0055	-555	c.239 others(17): Show c.239-4895_239-4341del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
MYOM2_chr8_2040046_2150456	2085468	GCTGTCGT others(548): Show GCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTGGCC CCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGG CCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGC GTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCT TTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGAT CTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCG TGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGT TGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0039 a0039	a0039c0029 a0039c0029	a0039c0029t0001 a0039c0029t0001	a0039c0029t0001g0174 a0039c0029t0001g0174	1	403	0.0025	-555	c.164 others(16): Show c.1644+92_1644+646del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085527	TGTGATCT others(548): Show TGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGT TGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCA CTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCT ACTGTC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0374 a0009c0012t0001g0374	1	403	0.0025	-555	c.164 others(17): Show c.1644+157_1644+711del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241805485	CTCCCCCC others(548): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-555	c.-37 others(11): Show c.-3792_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3707		chr2	TogoVar
NHSL2_chrX_71905845_72158286	72155111	CATGCTTA others(548): Show CATGCTTAGATGGAGTTTACTGTGTGGGATGTTTACTAGGGAATGCTCTA GGGATCAATATCTGTGGAAGAGAAAGGAAGGAAACAAGATTAGACAGGAG GCAGCTGGGCAAGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGCCG AGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACA AGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTG GCAGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGAGAGGAGAATTGC TTGAACCTGGGAGGCAGAGGTTGTAGTGAGCTGAGATCACGCCACAGCAT TCCAGCGTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAATTTAG ATGGAGCCGTCTCTCCAATTTACCTCCCACCACTCCCTGTTGCATCAAAC CCAACCAGCTTCATTCCCTTATATTATCTGTCAGGTCCCTGAAGGCATAT GAGTTTTTGACCCTTACCTTAAGTTGTCATCACAGGTTGAAGAACCCAGG AAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp1 others(99): Show HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0011 a0012	a0001c0001 a0001c0003 a0001c0014 others(5): Show a0001c0001 a0001c0003 a0001c0014 a0003c0004 a0004c0005 a0007c0008 a0011c0009 a0012c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(41): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0041 a0001c0001t0042 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0003t0011 a0001c0003t0030 a0001c0003t0034 a0001c0003t0070 a0001c0003t0084 a0001c0014t0040 a0003c0004t0001 a0003c0004t0004 a0003c0004t0006 a0003c0004t0008 a0003c0004t0061 a0003c0004t0063 a0003c0004t0071 a0004c0005t0001 a0004c0005t0043 a0004c0005t0082 a0007c0008t0001 a0011c0009t0001 a0012c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(99): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0004g0014 a0001c0001t0004g0066 a0001c0001t0004g0116 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0009g0032 a0001c0001t0009g0040 a0001c0001t0009g0184 a0001c0001t0010g0002 a0001c0001t0010g0008 a0001c0001t0010g0084 a0001c0001t0020g0042 a0001c0001t0020g0139 a0001c0001t0021g0006 a0001c0001t0021g0007 a0001c0001t0022g0052 a0001c0001t0022g0127 a0001c0001t0024g0001 a0001c0001t0025g0015 a0001c0001t0026g0172 a0001c0001t0027g0025 a0001c0001t0041g0044 a0001c0001t0042g0109 a0001c0001t0062g0036 a0001c0001t0064g0009 a0001c0001t0065g0163 a0001c0001t0066g0046 a0001c0001t0067g0148 a0001c0001t0068g0130 a0001c0001t0069g0048 a0001c0001t0072g0038 a0001c0001t0074g0142 a0001c0001t0080g0073 a0001c0001t0081g0081 a0001c0001t0083g0113 a0001c0003t0011g0155 a0001c0003t0011g0156 a0001c0003t0030g0152 a0001c0003t0034g0153 a0001c0003t0070g0027 a0001c0003t0084g0150 a0001c0014t0040g0167 a0003c0004t0001g0043 a0003c0004t0001g0121 a0003c0004t0004g0186 a0003c0004t0006g0082 a0003c0004t0006g0083 a0003c0004t0006g0112 a0003c0004t0008g0003 a0003c0004t0008g0071 a0003c0004t0008g0085 a0003c0004t0061g0136 a0003c0004t0063g0063 a0003c0004t0071g0011 a0004c0005t0001g0087 a0004c0005t0001g0088 a0004c0005t0043g0061 a0004c0005t0082g0062 a0007c0008t0001g0110 a0011c0009t0001g0176 a0012c0018t0001g0147	102	187	0.5455	-555	c.11 others(13): Show c.11538_*12092del	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding		1826		chrX	TogoVar
RNF213_chr17_80255852_80403794	80314340	GTGGTGGT others(548): Show GTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGA GGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGG TGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAG GTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGT GATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGG TAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTG ATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGT GGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGG TGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTA ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG AGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0006 a0028c0034t0012 a0028c0034t0006 a0028c0034t0012	a0028c0034t0006g0239 a0028c0034t0012g0237 a0028c0034t0006g0239 a0028c0034t0012g0237	2	292	0.0069	-555	c.281 others(19): Show c.2811+1180_2811+1734del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPRD2_chr1_150359147_150481566	150445304	TAGCTTAC others(548): Show TAGCTTACCCAAGTTACACAACTGATAAGAGGCAAAGCCAAACTTTATAC TCATATCCAAAGCCATATTCTGCCAGTCACTGGGAAAGAAGTAGATATAC TGAATTATCACGAATCTTTTTCAGATAGGAAAGAAGAACTTTTATTGTGA TGCATACAGAGGTCACTTTATTTTTACTTTTCTGAACGTTACTTTTCTCG TTTAAGAGATAACATCTTACTACCTTCTGTAATGCAAAAGTTATGGTATA AGCGAATACAGTTGAGCTTCATTCTGTTATTCCTAAGTAAGTAGCAGTGT GGAATCCAATTTGTGAAGAAAATAATTAATCAACAAACTCTTTTAGTTGA ACTTTCTTTTCTTTACCTTAATTACAAGTGCCTTCACTCTGGCAGGTTCA CATGAGTCTGTTCTGTAAAGAATTTTAATAATCTGTTTTGTGATTTTGTG ATTTGGAGAAACTTGTTTAAGATAAAATTGTGAGGCCGGGCACGGTGGCT CACAACTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCGGATCACGAG GTCAGG	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	318	0.0031	-555	c.695 others(15): Show c.695-917_695-363del	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070292	GGCATCAC others(548): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGT GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACAC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0105 a0001c0030t0001g0105	1	118	0.0085	-555	c.224 others(19): Show c.2241+2786_2241+3340del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNTG2_chr2_945849_1372613	1012921	TGGGCAGA others(548): Show TGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAA GGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAG AGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATG GGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGG GTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAG GGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGG CAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGT GGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGG ATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCA GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGAT TTATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG03017.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18942.hp2 NA18943.hp1 NA18970.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19030.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0018 a0019 a0023	a0001c0001 a0001c0002 a0002c0003 others(21): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0003c0026 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0007c0016 a0007c0017 a0007c0024 a0008c0011 a0009c0013 a0009c0029 a0010c0012 a0011c0018 a0018c0023 a0019c0025 a0023c0027	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0026t0001 a0004c0004t0001 a0004c0014t0001 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0008c0011t0001 a0009c0013t0001 a0009c0029t0001 a0010c0012t0001 a0011c0018t0001 a0018c0023t0001 a0019c0025t0001 a0023c0027t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0035 others(63): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0003g0120 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0087 a0001c0002t0001g0109 a0001c0002t0002g0002 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0185 a0002c0005t0001g0014 a0002c0005t0001g0020 a0002c0005t0001g0032 a0002c0005t0001g0114 a0002c0005t0001g0131 a0002c0022t0001g0155 a0003c0007t0001g0008 a0003c0007t0001g0018 a0003c0007t0001g0068 a0003c0007t0001g0108 a0003c0007t0001g0184 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0144 a0004c0004t0001g0149 a0004c0014t0001g0036 a0005c0006t0001g0019 a0005c0006t0001g0079 a0005c0006t0002g0003 a0005c0015t0001g0037 a0006c0009t0001g0011 a0006c0009t0001g0049 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0010t0001g0009 a0006c0010t0001g0012 a0007c0016t0001g0135 a0007c0017t0001g0105 a0007c0017t0001g0118 a0007c0024t0002g0073 a0008c0011t0001g0004 a0008c0011t0001g0128 a0008c0011t0001g0188 a0009c0013t0001g0132 a0009c0029t0001g0152 a0010c0012t0001g0066 a0010c0012t0001g0096 a0011c0018t0001g0045 a0011c0018t0001g0046 a0018c0023t0001g0048 a0019c0025t0001g0034 a0023c0027t0001g0127	66	190	0.3474	-555	c.72+ others(17): Show c.72+61913_72+62467del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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