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
GABRA3_chrX_152161234_152456315	152275596	TAAAAATA others(334): Show TAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTGCCTGTAATCCTAG CTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAG TTGCAGTGAGTCGAGATCGTGCAACTGCACTCCGGCCTGGACAACAGAGT GAGATTCCATCTCAAAATAAATAAATAAATAAATATATTTATATCCTGTA AATAAATCATTTATATATATATTTATAGGATAGATATAGATGGCTAGATA TGAATGAGAGACAGTTAATTTGGGAATACTTATGAACACACATACAAATA CTAATAATAAAATAATAGTAAACCTAACTAAAACATGTATAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	204	0.0049	-341	c.330 others(17): Show c.330+8731_330+9071del	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
KCNG2_chr18_79792938_79905100	79831388	GTCAGGAG others(334): Show GTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCG GACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGCGTGCCCTGCGTACAGAGCCTTCGTCAGGAGCGTGCC CTGCGTACAGAGCCTTCGTCAGGAGCGTGCCCTGCGTACAGAGCCTTCGT CAGGAGCGTGCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGA CAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCA	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0196 a0001c0003t0001g0196	1	312	0.0032	-341	c.-11 others(21): Show c.-114-24961_-114-24621del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
MLPH_chr2_237482251_237560322	237544822	GGGGGGAC others(334): Show GGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGA GTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTG AGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTG GTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAG TGTTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01169.hp1 NA19082.hp2 HG00735.hp2 HG01169.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0209	3	286	0.0105	-341	c.154 others(19): Show c.1540-1778_1540-1438del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2086055	CGTGATCT others(334): Show CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGC CCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTG GCCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCGCGTGGC CCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCG TGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0278 a0001c0009t0002g0278	1	403	0.0025	-341	c.164 others(18): Show c.1644+675_1644+1015del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64173886	CCTGCAGC others(334): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	223	0.0045	-341	c.-99 others(17): Show c.-99+9150_-99+9490del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPY_chr7_24279190_24296862	24294690	CAGAGCTC others(334): Show CAGAGCTCTACTTGACAGGAACAGAGAGAGAGTAGCAGAGGCTAGATTGA TGAACTAGGTCTAAGAATGGCCAAACTCATTCATTCACTTAACATATTTT CATCACCTAATATGTATTGGTACTAAGCACTGAGGATACAATTGTGCTAA GCAGTGAGGATACAAAGATTAGTTTCTCAGGGAATTTACTATCTAATGAG GGAGGCAAATAATTACAGTACATTGTTGGAAGTGCAGAGATGTGTCAGAG GTCTAAGAAGTAGTTAGGTGCTAGAACCTTCCCACTCATCATGCTTCCCT TTGCAGTTTCCTAACAAGGGAGCCGTACATATAAGAGTCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18961.hp1 NA18612.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0002 a0001c0001t0001g0040	2	476	0.0042	-341	c.30 others(11): Show c.3004_*3344del	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding		2829		chr7	TogoVar
OVOL2_chr20_18019163_18062916	18047349	CTAAAAAT others(334): Show CTAAAAATACAAAAATTAGCCGCGCATGGTGGCTACTCATAATCCCAGCT ACTCGGGAGGCTGAAACAAGAGAATCGTTTGAACCCGGGAGGCGGAGGTT GCAGTGAGCCGAAATTGTGCCGTTGCACTCCAGCCTGGGCAACAAGACTG TAACTCTGTCTCAAAATAAATAAATATAAATAAATATAATAATAATATCT GTCTCTTAGAAATAAATGAAATTGGCAGGGCACAGTGGCTCACACCTGTA ATCCTAGTACTTTGGGAGGCCAAGGCCGGTGGATCATCTGAGGTCAGGAG TTCGAGACCAGCCTGACCAACATGGTGAAACCCCGCCTCTAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02148.hp2 HG02486.hp2 others(10): Show HG01884.hp1 HG02148.hp2 HG02486.hp2 HG02698.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03471.hp2 HG03579.hp1 HG03704.hp1 NA18995.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0038 a0001c0002t0001g0140 a0001c0002t0001g0318 others(9): Show a0001c0001t0001g0038 a0001c0002t0001g0140 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0331 a0001c0002t0002g0330 a0001c0002t0003g0027 a0001c0002t0003g0236 a0001c0002t0003g0321 a0001c0002t0003g0333 a0001c0002t0003g0334	13	386	0.0337	-341	c.322 others(17): Show c.322-5967_322-5627del	OVOL2	ENSG00000125850.11	transcript	ENST00000278780.7	protein_coding	2/3			chr20	TogoVar
OVOL2_chr20_18019163_18062916	18047370	GCGCATGG others(334): Show GCGCATGGTGGCTACTCATAATCCCAGCTACTCGGGAGGCTGAAACAAGA GAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAAATTGTGCC GTTGCACTCCAGCCTGGGCAACAAGACTGTAACTCTGTCTCAAAATAAAT AAATATAAATAAATATAATAATAATATCTGTCTCTTAGAAATAAATGAAA TTGGCAGGGCACAGTGGCTCACACCTGTAATCCTAGTACTTTGGGAGGCC AAGGCCGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAAC ATGGTGAAACCCCGCCTCTATTAAAAATACAAAAATTAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp1 HG02896.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0244 a0001c0001t0001g0182 a0001c0001t0001g0244	2	386	0.0052	-341	c.322 others(17): Show c.322-5988_322-5648del	OVOL2	ENSG00000125850.11	transcript	ENST00000278780.7	protein_coding	2/3			chr20	TogoVar
PCGF3_chr4_700832_775089	744814	CCGGGGGT others(334): Show CCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	366	0.0027	-341	c.462 others(15): Show c.462+128_462+468del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744952	CTCTCCGT others(334): Show CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp2 NA18747.hp1 HG01361.hp1 HG02071.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0195 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0001g0195 a0001c0001t0003g0044 a0001c0001t0003g0045	3	366	0.0082	-341	c.462 others(15): Show c.462+267_462+607del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745012	TCCGTGGA others(334): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0152 a0001c0001t0013g0152	1	366	0.0027	-341	c.462 others(15): Show c.462+356_462+696del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745923	GCCGTGGA others(334): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 NA18999.hp1 others(1): Show HG00738.hp2 HG01255.hp2 NA18999.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0351 others(1): Show a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0351 a0001c0001t0003g0318	4	366	0.0109	-341	c.462 others(17): Show c.462+1267_462+1607del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746123	CCCGGGGG others(334): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	366	0.0027	-341	c.462 others(17): Show c.462+1438_462+1778del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746179	CCCGGGGG others(334): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0152 a0001c0001t0013g0152	1	366	0.0027	-341	c.462 others(17): Show c.462+1494_462+1834del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746182	GGGGGTCG others(334): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18960.hp2 NA18954.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0185 a0001c0001t0002g0148 a0001c0001t0002g0185	2	366	0.0055	-341	c.462 others(17): Show c.462+1519_462+1859del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747261	CCCCGGGG others(334): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGC AGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG01257.hp1 others(5): Show HG00673.hp2 HG00738.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG03516.hp1 HG03579.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0002c0002t0001	a0001c0001t0001g0233 a0001c0001t0007g0120 a0001c0001t0007g0313 others(5): Show a0001c0001t0001g0233 a0001c0001t0007g0120 a0001c0001t0007g0313 a0001c0001t0021g0217 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0294	8	366	0.0219	-341	c.462 others(17): Show c.462+2581_462+2921del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PIP5K1C_chr19_3625183_3705468	3703477	AAGGCAGA others(334): Show AAGGCAGAGGTTGCAGTGAGCCAACATGGCACCACTGCACTCCAGCCTGG GCGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAGAAG AAGAAGAAGAAGAAAGAAATGGTGAAAATGGGCCGGGTGCGGTGGCTCAC GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCTGGCAGATCACCTAAGG TCAGGAGTTCAAGACCAGCCTGGTCAATGTGGTGAAACCCTGTCTCTACT AAAAATACCAAAAAATTAGCTGGGCATAGTGGCACAGGCCTATAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03579.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0026 a0001c0027 a0001c0026 a0001c0027	a0001c0026t0005 a0001c0027t0026 a0001c0026t0005 a0001c0027t0026	a0001c0026t0005g0324 a0001c0027t0026g0323 a0001c0026t0005g0324 a0001c0027t0026g0323	2	332	0.0060	-341	c.-34 others(11): Show c.-3428_-3088del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding		3010		chr19	TogoVar
PKP3_chr11_389209_409908	402074	ACCCCGGC others(334): Show ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTC ACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCC GCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCG GCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACC CCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02056.hp2 HG02717.hp1 others(2): Show HG00733.hp2 HG02056.hp2 HG02717.hp1 HG02897.hp1 NA18995.hp1	a0001 a0001	a0001c0007 a0001c0012 a0001c0007 a0001c0012	a0001c0007t0001 a0001c0012t0001 a0001c0007t0001 a0001c0012t0001	a0001c0007t0001g0003 a0001c0007t0001g0004 a0001c0007t0001g0213 others(2): Show a0001c0007t0001g0003 a0001c0007t0001g0004 a0001c0007t0001g0213 a0001c0012t0001g0123 a0001c0012t0001g0126	5	216	0.0232	-341	c.173 others(17): Show c.1738-984_1738-644del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCG2_chr16_81774291_81967685	81866328	ATGAGAGG others(334): Show ATGAGAGGACGCTGGCCTCTCCCTTGCTCCCAGGTTGAGCTCCACTGGGG CACCAGCATGAGAGGACGCTGGCCTCTCCCTTGCTCCCAGGATGAGCTCC ACTGGGGCACCAGCATGAGAGGACGCTAGCCTCTCCCTTTCTCCCAGGAT GGTCTCCACTGGGGCACCAGCATGAGAGGACGCTGGCCTCTCCCTTGCTC CCAGGATGAGCTCCACTGGGGCACCAGCATGAGAGGACGTGGCCTCTCCC TTGCTCCCAAGATGAGCTCCACTGGGGCACTAGCATGAGAGGATGCTGGC CTCTCCCTTGCTCCCAGGATGAGCTCCACTGGGGCACCAGCG	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19056.hp2 NA19058.hp2 NA18982.hp2 NA19056.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0050 a0001c0003t0002 a0001c0005t0001 a0001c0001t0050 a0001c0003t0002 a0001c0005t0001	a0001c0001t0050g0269 a0001c0003t0002g0181 a0001c0005t0001g0270 a0001c0001t0050g0269 a0001c0003t0002g0181 a0001c0005t0001g0270	3	330	0.0091	-341	c.480 others(17): Show c.480-2852_480-2512del	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122024	GGTAGTTA others(334): Show GGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGG TGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACG GTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGT GGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	286	0.0035	-341	c.335 others(19): Show c.335-13235_335-12895del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
REEP6_chr19_1486181_1502927	1502586	TGCTTGAA others(334): Show TGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCATTG CACTGCAGCCTGGGTGACAAGAGCAAAACTCCATCTCAAACAATAAATAA AAATAAAAATAAATAAAAGAAGGAAAGAGTGGCAGCCAGGTGCAGTGTCT GACACCTGTAATCCAGCGCTTTAGGAGGCTGAGACAGGAGATTCGCTTAA GGCCAGGTATTCAAGCCCAGCCTTGGCAACATAGAGAGACACCATCTCTA CAAAAAAGAAAAGAAAAGAAAAATTAGCCACACATTGTGGTATGCACCTG TAGTCCTAGCTACACCAGAGGCTGAGGCAGGAGGATCACTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	318	0.0031	-341	c.53 others(11): Show c.5376_*5716del	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		4660		chr19	TogoVar
RIPK1_chr6_3063494_3120187	3093077	TAACCGCA others(334): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGC CTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	340	0.0029	-341	c.915 others(17): Show c.915+3429_915+3769del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093086	CGCGCCTA others(334): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19001.hp2 NA19002.hp2 HG02040.hp1 NA19001.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0296 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0296	3	340	0.0088	-341	c.915 others(17): Show c.915+3460_915+3800del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093117	CGCGCCTA others(334): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19082.hp2 NA18971.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0162 a0001c0001t0001g0108 a0001c0001t0001g0162	2	340	0.0059	-341	c.915 others(17): Show c.915+3491_915+3831del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093644	CGCGCCTA others(334): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0209 a0001c0001t0012g0209	1	340	0.0029	-341	c.915 others(17): Show c.915+4013_915+4353del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093670	CGCAGCGC others(334): Show CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACTGCAGAGCGCCTACCTGCCGCACCTAGTAACT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	340	0.0029	-341	c.915 others(17): Show c.915+4044_915+4384del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093771	GCCTACCT others(334): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACTGCAGAGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGC CTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTA ACTGCAGCGCGCCTACCTCCTGCACCTAGTAACTGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	340	0.0029	-341	c.915 others(17): Show c.915+4137_915+4477del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SIGIRR_chr11_400716_419999	402074	ACCCCGGC others(334): Show ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTC ACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCC GCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCG GCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACC CCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02717.hp1 HG02895.hp2 others(3): Show HG02056.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03834.hp2 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(3): Show a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0006t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0115	6	242	0.0248	-341	c.34 others(11): Show c.3481_*3821del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3641		chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79920228	GAGGAGAG others(334): Show GAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAG TGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0256 a0001c0001t0039g0256	1	352	0.0028	-341	c.392 others(16): Show c.392-1169_392-829del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SNTG2_chr2_945849_1372613	1342275	TGCTCTGT others(334): Show TGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTT TTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02922.hp1 HG03942.hp2 HG01346.hp2 HG02922.hp1 HG03942.hp2	a0003 a0006 a0017 a0003 a0006 a0017	a0003c0007 a0006c0010 a0017c0031 a0003c0007 a0006c0010 a0017c0031	a0003c0007t0001 a0006c0010t0001 a0017c0031t0001 a0003c0007t0001 a0006c0010t0001 a0017c0031t0001	a0003c0007t0001g0018 a0006c0010t0001g0006 a0017c0031t0001g0110 a0003c0007t0001g0018 a0006c0010t0001g0006 a0017c0031t0001g0110	3	190	0.0158	-341	c.148 others(21): Show c.1489-25052_1489-24712del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342405	GGCAGCTT others(334): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0164 a0009c0013t0001g0164	1	190	0.0053	-341	c.148 others(21): Show c.1489-24862_1489-24522del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344628	CTTTTCCC others(334): Show CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGC CTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTA ATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	190	0.0053	-341	c.148 others(21): Show c.1489-22711_1489-22371del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345418	CGCACTTT others(334): Show CGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTGGCACTTTTCCCCCTGTTGTGGGCACGCCTGGCCCA GCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGA AGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	190	0.0053	-341	c.148 others(21): Show c.1489-21917_1489-21577del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7633784	TCCTTCAT others(334): Show TCCTTCATGTGTCCGTCAGGCGGGATTAACGGCCAGCTCCGTGTCCTGTT TTGCTCGAGGTACAAAAATGGCACATGGGCCAGTGAGGATGGTGGACACA CAGTTGCGTCGTAAGAACGTTTGAAAAACTGTATCATGGAAAAAGTGCTT TAATGAGGGGGATTTGGGCTTCCCTGGCCAAATGGCACAGACGTGTGGGT CAAAGTTGAATGGATGATGAATGAACCAAGAAGTCCTGAGGACTTCCTTC CTTCTTCCTGGTTATCCAGGGAATCCACGTGCAGTGTATGCAGAACTTTG GGAGGGACAGGCCGGGCACCGTGGCTCATGCCTTAATCCTAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp2 others(47): Show HG00099.hp2 HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02886.hp2 HG03017.hp2 HG03195.hp1 HG03453.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18962.hp2 NA18966.hp2 NA19000.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0026 a0001c0029 a0001c0030 a0001c0034 a0002c0004 a0002c0050 a0003c0012 a0003c0035 a0004c0043 a0006c0018 a0006c0020 a0010c0040 a0012c0039	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(41): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0043 a0001c0002t0047 a0001c0002t0053 a0001c0002t0054 a0001c0003t0003 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0015 a0001c0003t0064 a0001c0005t0014 a0001c0006t0001 a0001c0006t0002 a0001c0006t0066 a0001c0011t0016 a0001c0026t0062 a0001c0029t0074 a0001c0030t0040 a0001c0034t0009 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0014 a0002c0004t0024 a0002c0004t0056 a0002c0050t0045 a0003c0012t0055 a0003c0035t0007 a0004c0043t0037 a0006c0018t0059 a0006c0020t0020 a0010c0040t0004 a0012c0039t0063	a0001c0001t0002g0089 a0001c0001t0003g0098 a0001c0001t0005g0067 others(47): Show a0001c0001t0002g0089 a0001c0001t0003g0098 a0001c0001t0005g0067 a0001c0001t0007g0063 a0001c0001t0009g0085 a0001c0001t0010g0129 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0002t0002g0133 a0001c0002t0007g0008 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0043g0070 a0001c0002t0047g0020 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0003t0003g0088 a0001c0003t0008g0135 a0001c0003t0009g0086 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0015g0140 a0001c0003t0064g0005 a0001c0005t0014g0102 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0066g0084 a0001c0011t0016g0076 a0001c0026t0062g0049 a0001c0029t0074g0162 a0001c0030t0040g0109 a0001c0034t0009g0093 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0003g0012 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0014g0083 a0002c0004t0014g0110 a0002c0004t0024g0057 a0002c0004t0024g0114 a0002c0004t0056g0134 a0002c0050t0045g0132 a0003c0012t0055g0033 a0003c0035t0007g0075 a0004c0043t0037g0058 a0006c0018t0059g0145 a0006c0020t0020g0037 a0010c0040t0004g0024 a0012c0039t0063g0064	50	168	0.2976	-341	c.649 others(17): Show c.649-4542_649-4202del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TJP3_chr19_3703384_3755813	3703477	AAGGCAGA others(334): Show AAGGCAGAGGTTGCAGTGAGCCAACATGGCACCACTGCACTCCAGCCTGG GCGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAGAAG AAGAAGAAGAAGAAAGAAATGGTGAAAATGGGCCGGGTGCGGTGGCTCAC GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCTGGCAGATCACCTAAGG TCAGGAGTTCAAGACCAGCCTGGTCAATGTGGTGAAACCCTGTCTCTACT AAAAATACCAAAAAATTAGCTGGGCATAGTGGCACAGGCCTATAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03579.hp1 HG02647.hp2 HG03579.hp1	a0002 a0002	a0002c0014 a0002c0051 a0002c0014 a0002c0051	a0002c0014t0003 a0002c0051t0003 a0002c0014t0003 a0002c0051t0003	a0002c0014t0003g0388 a0002c0051t0003g0389 a0002c0014t0003g0388 a0002c0051t0003g0389	2	398	0.0050	-341	c.-50 others(11): Show c.-5093_-4753del	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding		4906		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133292044	TCCGTGTC others(334): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTC CGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTC CCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCA TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03453.hp2 HG01069.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0002 a0001c0001t0001 a0001c0020t0002	a0001c0001t0001g0233 a0001c0020t0002g0229 a0001c0001t0001g0233 a0001c0020t0002g0229	2	284	0.0070	-341	c.121 others(17): Show c.1214+114_1214+454del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WDR27_chr6_169452212_169707029	169644716	TAGAAAAT others(334): Show TAGAAAATCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAATAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(169): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(27): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0034 a0035 a0036	a0001c0001 a0001c0010 a0001c0037 others(39): Show a0001c0001 a0001c0010 a0001c0037 a0002c0003 a0002c0024 a0002c0026 a0004c0006 a0004c0007 a0004c0046 a0005c0004 a0005c0042 a0006c0005 a0007c0011 a0007c0012 a0007c0017 a0008c0038 a0012c0014 a0013c0023 a0014c0025 a0015c0033 a0015c0045 a0016c0018 a0017c0044 a0017c0047 a0018c0021 a0019c0020 a0020c0019 a0021c0022 a0022c0040 a0022c0041 a0023c0050 a0024c0049 a0025c0034 a0026c0036 a0027c0035 a0028c0048 a0029c0031 a0030c0030 a0031c0032 a0034c0039 a0035c0028 a0036c0027	a0001c0001t0001 a0001c0010t0008 a0001c0037t0001 others(50): Show a0001c0001t0001 a0001c0010t0008 a0001c0037t0001 a0002c0003t0002 a0002c0024t0005 a0002c0026t0003 a0004c0006t0006 a0004c0006t0008 a0004c0006t0020 a0004c0006t0021 a0004c0007t0005 a0004c0007t0007 a0004c0007t0019 a0004c0046t0006 a0005c0004t0005 a0005c0042t0002 a0006c0005t0004 a0006c0005t0010 a0007c0011t0010 a0007c0012t0003 a0007c0012t0004 a0007c0012t0015 a0007c0017t0010 a0007c0017t0014 a0008c0038t0011 a0012c0014t0002 a0012c0014t0005 a0013c0023t0007 a0014c0025t0003 a0015c0033t0001 a0015c0045t0008 a0016c0018t0001 a0017c0044t0008 a0017c0047t0008 a0018c0021t0001 a0018c0021t0006 a0019c0020t0012 a0020c0019t0001 a0021c0022t0001 a0022c0040t0005 a0022c0041t0002 a0023c0050t0002 a0024c0049t0006 a0025c0034t0001 a0026c0036t0001 a0027c0035t0001 a0028c0048t0008 a0029c0031t0017 a0030c0030t0004 a0031c0032t0004 a0034c0039t0005 a0035c0028t0013 a0036c0027t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(169): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0010t0008g0255 a0001c0010t0008g0256 a0001c0010t0008g0257 a0001c0010t0008g0258 a0001c0010t0008g0281 a0001c0037t0001g0178 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0024t0005g0051 a0002c0024t0005g0075 a0002c0026t0003g0249 a0002c0026t0003g0250 a0004c0006t0006g0252 a0004c0006t0006g0253 a0004c0006t0006g0266 a0004c0006t0006g0267 a0004c0006t0006g0268 a0004c0006t0006g0269 a0004c0006t0006g0270 a0004c0006t0006g0271 a0004c0006t0006g0272 a0004c0006t0006g0273 a0004c0006t0006g0275 a0004c0006t0006g0276 a0004c0006t0006g0277 a0004c0006t0006g0280 a0004c0006t0006g0283 a0004c0006t0008g0263 a0004c0006t0008g0264 a0004c0006t0008g0265 a0004c0006t0020g0260 a0004c0006t0021g0282 a0004c0007t0005g0106 a0004c0007t0005g0107 a0004c0007t0005g0108 a0004c0007t0005g0109 a0004c0007t0005g0110 a0004c0007t0005g0111 a0004c0007t0005g0112 a0004c0007t0005g0113 a0004c0007t0005g0114 a0004c0007t0005g0115 a0004c0007t0005g0116 a0004c0007t0007g0251 a0004c0007t0019g0188 a0004c0046t0006g0278 a0005c0004t0005g0100 a0005c0042t0002g0093 a0006c0005t0004g0003 a0006c0005t0004g0005 a0006c0005t0004g0006 a0006c0005t0004g0007 a0006c0005t0004g0009 a0006c0005t0004g0010 a0006c0005t0004g0011 a0006c0005t0004g0012 a0006c0005t0004g0013 a0006c0005t0004g0014 a0006c0005t0004g0015 a0006c0005t0004g0016 a0006c0005t0004g0017 a0006c0005t0004g0018 a0006c0005t0004g0019 a0006c0005t0004g0020 a0006c0005t0004g0021 a0006c0005t0004g0022 a0006c0005t0004g0023 a0006c0005t0004g0024 a0006c0005t0004g0032 a0006c0005t0004g0033 a0006c0005t0010g0034 a0007c0011t0010g0027 a0007c0012t0003g0246 a0007c0012t0004g0029 a0007c0012t0004g0030 a0007c0012t0015g0035 a0007c0017t0010g0002 a0007c0017t0014g0031 a0008c0038t0011g0038 a0012c0014t0002g0103 a0012c0014t0002g0104 a0012c0014t0005g0105 a0013c0023t0007g0247 a0013c0023t0007g0248 a0014c0025t0003g0190 a0014c0025t0003g0191 a0015c0033t0001g0182 a0015c0045t0008g0262 a0016c0018t0001g0123 a0016c0018t0001g0124 a0017c0044t0008g0274 a0017c0047t0008g0259 a0018c0021t0001g0144 a0018c0021t0006g0254 a0019c0020t0012g0117 a0019c0020t0012g0118 a0020c0019t0001g0130 a0020c0019t0001g0131 a0021c0022t0001g0128 a0021c0022t0001g0129 a0022c0040t0005g0086 a0022c0041t0002g0040 a0023c0050t0002g0050 a0024c0049t0006g0279 a0025c0034t0001g0162 a0026c0036t0001g0155 a0027c0035t0001g0119 a0028c0048t0008g0261 a0029c0031t0017g0076 a0030c0030t0004g0008 a0031c0032t0004g0028 a0034c0039t0005g0092 a0035c0028t0013g0001 a0036c0027t0001g0141	172	294	0.5850	-341	c.165 others(18): Show c.1658-1271_1658-931del	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	16/25			chr6	TogoVar
ZER1_chr9_128724786_128776927	128737955	AGCCTCCC others(334): Show AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCT GTTTTGTTTTCTTGTTTTTTTTATTCATTTTTATTTTTATTTTTATTTAT TTATTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTTGGCTAACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCCACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGGTGGGGTTTCACTGCGTTAGCC AAGATGGTCTCGATTTCCTGACCTCATGATCTGCCCGCCTCT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19064.hp2 NA18942.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0190 a0001c0001t0001g0199	2	330	0.0061	-341	c.204 others(19): Show c.2042+1635_2042+1975del	ZER1	ENSG00000160445.11	transcript	ENST00000291900.7	protein_coding	13/15			chr9	TogoVar
ACTN2_chr1_236681499_236769631	236755852	ACTGTTAG others(333): Show ACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCA CTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCAC CGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02572.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18964.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018 a0001c0021 a0001c0025 a0001c0027 a0003c0012 a0006c0022 a0007c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0018t0006 a0001c0021t0001 a0001c0025t0006 a0001c0027t0001 a0003c0012t0008 a0006c0022t0001 a0007c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0003g0020 a0001c0001t0003g0149 a0001c0001t0003g0340 a0001c0001t0004g0075 a0001c0001t0004g0200 a0001c0001t0006g0135 a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0001t0025g0010 a0001c0002t0002g0220 a0001c0002t0002g0314 a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0006g0124 a0001c0003t0006g0126 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0132 a0001c0003t0006g0134 a0001c0003t0006g0136 a0001c0018t0006g0123 a0001c0021t0001g0254 a0001c0025t0006g0121 a0001c0027t0001g0311 a0003c0012t0008g0092 a0003c0012t0008g0098 a0006c0022t0001g0203 a0007c0023t0001g0332	118	344	0.3430	-340	c.215 others(17): Show c.2154+656_2154+995del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179313536	ATGCACAC others(333): Show ATGCACACACACACATCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTG TCAGCAGAGGGGACGCACAAGCATTCACACTCATGCACACACACACTCAC ACCGAGACAGAGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGAGGAC GCACACGCATTCACACTCGTGCACACACACACTCACACCGAGACAGAGGA GGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACAAGCATTCAC ACTCATGCACACACACACTCACACCGAGACAGAGGAGGGCCTGGCCGGAG CAGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0003 a0032c0045t0003	a0032c0045t0003g0171 a0032c0045t0003g0171	1	276	0.0036	-340	c.534 others(19): Show c.534+29891_534+30230del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1460489	ACGAACCT others(333): Show ACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCTGTGA CCTGAGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCG TTACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAGCAAACCTGCCTGT GACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTG TGTAACAAACCTGCCTGTGACCTGAATTTACCTGTGTAGCAAACCTGCCT GTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTACC TGTGTAGCAAACCTGTCTGTGACCTGAGTTTACCTGTGTAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp1 HG03041.hp2 others(1): Show HG01081.hp2 HG02258.hp1 HG03041.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0049 a0001c0001t0051 others(1): Show a0001c0001t0012 a0001c0001t0049 a0001c0001t0051 a0002c0002t0048	a0001c0001t0012g0009 a0001c0001t0049g0040 a0001c0001t0051g0051 others(1): Show a0001c0001t0012g0009 a0001c0001t0049g0040 a0001c0001t0051g0051 a0002c0002t0048g0068	4	106	0.0377	-340	c.101 others(19): Show c.101-81669_101-81330del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANO1_chr11_70073317_70194530	70121763	CCTCTCTG others(333): Show CCTCTCTGTCTGTCTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTG TCTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTCTATCTCTGTCTCTCC ATCTGCCTCTGTCTCTGTCTCTCCATCTCCCCCGCCTCTCTGTCTGTCTC TCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCCACCTCCC CACCTCTCTCTGTCTGTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTG TCTCTCTCTCCATCTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCT CCATCTGCCTCTGTCTCTCTCTCTCTCCGTCTCCCCCACCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0264 a0001c0003t0001g0264	1	302	0.0033	-340	c.898 others(17): Show c.898-2531_898-2192del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP2_chr2_9201812_9410678	9406083	GTGTTTGT others(333): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG06807.hp1 HG04115.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0017 a0002c0005t0001g0025 a0001c0003t0001g0017 a0002c0005t0001g0025	2	210	0.0095	-340	c.27 others(11): Show c.2757_*3096del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		406		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83039293	CGCCCGCC others(333): Show CGCCCGCCCCTCTTCTAGACACACTGCTGGGCGCCCGCCGCCCGCCCCTC TTCTAGACACTGCTGGGCGCCCGCCGCCCGCCCCTGTTCTAGACACACTG CTGGGCGCCCGCCGCCCGCCCCTCTTCTAGACACACTGCTGGGCGCCCGC CGCCCGCCCCTCTTCTAGACACACTGCTGGGCGCCCGCCGCCCGCCCCTG TTCTAGACACACTGCTGGGCGCCCGCCGCCCGCCCCTGTTCTAGACACAC TGCTGGGCGCCCGCCGCCCGAACCTGTTCTAGACACACTGCTGGGCGCCC ACCGCCCGCCCCTGTTCTAGACACACTGCTGGGCGCCCGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(38): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG03225.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0016 others(2): Show a0001c0004 a0001c0006 a0001c0016 a0002c0015 a0002c0022	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(14): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0018 a0001c0006t0023 a0001c0006t0033 a0001c0016t0001 a0002c0015t0003 a0002c0022t0003	a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(37): Show a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0022 a0001c0006t0002g0007 a0001c0006t0002g0024 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0006g0006 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0008g0020 a0001c0006t0010g0010 a0001c0006t0011g0018 a0001c0006t0011g0027 a0001c0006t0018g0015 a0001c0006t0023g0030 a0001c0006t0033g0044 a0001c0016t0001g0008 a0001c0016t0001g0009 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0022t0003g0029	41	266	0.1541	-340	c.233 others(17): Show c.233-4534_233-4195del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
BICC1_chr10_58507872_58836435	58716686	TTAATATT others(333): Show TTAATATTTCAAAACCCTTACTCTGTAAGATAAGTGTAGTTTAATTTTTT TCCCCTCGTATACTTTTATTTACCTGGGGAAGGAGCTTTTAGGGTTGGGG GGGTGGTTTGCTATCTCTTTAGCTAGCAGAATAGTGTGCCTTTGATCCTC ACACATCCTGTATTATGAACACAGTAGCCATACTTCACGGGGAGGTCAGA GCTGGCTACCAGCAGTCTTGCCCTTTACTGAGCTTAGTGTCATCCTTGGA TGCTGTCATATGCTGCTTTGAGTGAACCAGAGAAACAGCCATTTGCAGCA TGAGAAAGCCCCAAAAGCTCTGGGATTTACCTCCACTTCAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02886.hp1 others(3): Show HG02451.hp1 HG02486.hp2 HG02886.hp1 HG02922.hp2 HG03209.hp1 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0007	a0001c0001t0002 a0001c0001t0022 a0002c0002t0018 others(2): Show a0001c0001t0002 a0001c0001t0022 a0002c0002t0018 a0002c0003t0016 a0003c0007t0033	a0001c0001t0002g0008 a0001c0001t0022g0001 a0002c0002t0018g0131 others(3): Show a0001c0001t0002g0008 a0001c0001t0022g0001 a0002c0002t0018g0131 a0002c0003t0016g0061 a0002c0003t0016g0062 a0003c0007t0033g0046	6	132	0.0455	-340	c.307 others(19): Show c.307+14549_307+14888del	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906418	TTAAAACA others(333): Show TTAAAACACTTTGTCCTTTTGGCTGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGCCAGGAGATCGA GACCATACTGGCTAACATGGTGAAACTCCGTCTCTACCAAAAATACAAAA AAAGAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGGATGGCGTGAATCCGGGAGGCGGAGCTTGCAGT GAGCCGACATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02738.hp1 NA19043.hp2 HG02258.hp2 HG02738.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0028 a0001c0002t0040 a0004c0007t0010 a0001c0002t0028 a0001c0002t0040 a0004c0007t0010	a0001c0002t0028g0145 a0001c0002t0040g0038 a0004c0007t0010g0016 a0001c0002t0028g0145 a0001c0002t0040g0038 a0004c0007t0010g0016	3	278	0.0108	-340	c.531 others(17): Show c.531-5821_531-5482del	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12			chr10	TogoVar
CNTN5_chr11_99015949_100363885	99405591	TAGAATTC others(333): Show TAGAATTCTGAATTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00735.hp1 others(63): Show HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18957.hp1 NA18957.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0002c0002 a0003c0003 others(10): Show a0001c0001 a0002c0002 a0003c0003 a0003c0011 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0012 a0010c0010 a0011c0009 a0012c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0021 a0002c0002t0022 a0003c0003t0002 a0003c0003t0007 a0003c0003t0017 a0003c0011t0019 a0004c0004t0002 a0004c0004t0013 a0004c0004t0020 a0005c0005t0001 a0005c0005t0003 a0005c0005t0010 a0005c0005t0018 a0006c0006t0001 a0006c0006t0009 a0006c0006t0011 a0006c0006t0013 a0006c0006t0014 a0007c0007t0023 a0008c0008t0007 a0009c0012t0008 a0010c0010t0011 a0011c0009t0005 a0012c0013t0008	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 a0001c0001t0004g0010 a0001c0001t0004g0029 a0001c0001t0004g0044 a0001c0001t0005g0014 a0001c0001t0005g0048 a0001c0001t0006g0032 a0001c0001t0006g0040 a0001c0001t0006g0066 a0001c0001t0009g0043 a0001c0001t0009g0063 a0001c0001t0010g0023 a0001c0001t0010g0047 a0001c0001t0011g0062 a0001c0001t0012g0018 a0001c0001t0012g0030 a0001c0001t0014g0016 a0001c0001t0015g0064 a0001c0001t0016g0049 a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0007 a0002c0002t0004g0039 a0002c0002t0005g0015 a0002c0002t0008g0019 a0002c0002t0021g0055 a0002c0002t0022g0013 a0003c0003t0002g0002 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0027 a0003c0003t0002g0061 a0003c0003t0007g0034 a0003c0003t0007g0057 a0003c0003t0017g0065 a0003c0011t0019g0059 a0004c0004t0002g0001 a0004c0004t0002g0041 a0004c0004t0002g0051 a0004c0004t0013g0050 a0004c0004t0020g0024 a0005c0005t0001g0017 a0005c0005t0001g0035 a0005c0005t0003g0045 a0005c0005t0010g0006 a0005c0005t0018g0028 a0006c0006t0001g0005 a0006c0006t0009g0042 a0006c0006t0011g0033 a0006c0006t0013g0025 a0006c0006t0014g0058 a0007c0007t0023g0046 a0008c0008t0007g0038 a0009c0012t0008g0026 a0010c0010t0011g0009 a0011c0009t0005g0056 a0012c0013t0008g0031	66	66	1.0000	-340	c.-71 others(19): Show c.-71+80124_-71+80463del	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
COL4A2_chr13_110302284_110518209	110313477	CGTCCACC others(333): Show CGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGC TCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCC CGTGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAG GCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCAGTGC CCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCAGC AGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGT GCCCCGCGTCCACCCGGCAGGCTCCCACCCCAGTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp2 others(3): Show HG01243.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp1 HG02622.hp2 HG03098.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0046 a0001c0102 a0002c0013 others(2): Show a0001c0046 a0001c0102 a0002c0013 a0002c0082 a0003c0010	a0001c0046t0009 a0001c0102t0011 a0002c0013t0008 others(2): Show a0001c0046t0009 a0001c0102t0011 a0002c0013t0008 a0002c0082t0004 a0003c0010t0006	a0001c0046t0009g0171 a0001c0102t0011g0172 a0002c0013t0008g0006 others(3): Show a0001c0046t0009g0171 a0001c0102t0011g0172 a0002c0013t0008g0006 a0002c0082t0004g0366 a0003c0010t0006g0017 a0003c0010t0006g0018	6	372	0.0161	-340	c.99+ others(15): Show c.99+5407_99+5746del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CSMD1_chr8_2930361_4999914	4364527	TAAAAAGA others(333): Show TAAAAAGATAATCAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGCGCGACAGAGCGAGACTCCTTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(89): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0036 a0038	a0001c0001 a0001c0002 a0001c0003 others(85): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0017 a0001c0019 a0001c0025 a0001c0026 a0001c0033 a0001c0039 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0059 a0001c0061 a0001c0068 a0001c0079 a0001c0080 a0001c0081 a0001c0085 a0001c0090 a0001c0093 a0001c0094 a0001c0102 a0001c0103 a0001c0105 a0001c0109 a0001c0111 a0001c0114 a0001c0115 a0002c0012 a0002c0015 a0002c0022 a0002c0030 a0002c0032 a0002c0035 a0002c0037 a0002c0048 a0002c0051 a0002c0053 a0002c0054 a0002c0060 a0002c0070 a0002c0072 a0002c0074 a0002c0075 a0002c0078 a0002c0084 a0002c0089 a0003c0014 a0003c0034 a0003c0058 a0005c0064 a0005c0065 a0006c0083 a0006c0116 a0007c0029 a0007c0088 a0008c0008 a0008c0067 a0009c0113 a0010c0112 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0018c0044 a0019c0018 a0020c0024 a0021c0016 a0022c0013 a0023c0095 a0025c0096 a0026c0082 a0027c0023 a0028c0097 a0029c0028 a0030c0052 a0031c0069 a0032c0011 a0033c0042 a0036c0100 a0038c0066	a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 others(89): Show a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0019 a0001c0004t0020 a0001c0004t0063 a0001c0005t0002 a0001c0005t0007 a0001c0007t0001 a0001c0017t0005 a0001c0019t0078 a0001c0025t0003 a0001c0026t0006 a0001c0033t0003 a0001c0039t0066 a0001c0043t0031 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0079t0072 a0001c0080t0040 a0001c0081t0037 a0001c0085t0020 a0001c0090t0001 a0001c0093t0009 a0001c0094t0002 a0001c0102t0005 a0001c0103t0033 a0001c0105t0001 a0001c0109t0038 a0001c0111t0045 a0001c0114t0003 a0001c0115t0042 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0030t0016 a0002c0032t0050 a0002c0035t0047 a0002c0037t0009 a0002c0048t0013 a0002c0051t0006 a0002c0053t0022 a0002c0054t0079 a0002c0060t0006 a0002c0070t0046 a0002c0072t0003 a0002c0074t0041 a0002c0075t0026 a0002c0078t0044 a0002c0084t0018 a0002c0089t0001 a0003c0014t0055 a0003c0034t0030 a0003c0058t0057 a0005c0064t0051 a0005c0065t0023 a0006c0083t0004 a0006c0116t0004 a0007c0029t0011 a0007c0088t0076 a0008c0008t0082 a0008c0067t0059 a0009c0113t0011 a0010c0112t0081 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0018c0044t0064 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0022c0013t0007 a0023c0095t0002 a0025c0096t0067 a0026c0082t0052 a0027c0023t0001 a0028c0097t0018 a0029c0028t0024 a0030c0052t0049 a0031c0069t0043 a0032c0011t0065 a0033c0042t0004 a0036c0100t0017 a0038c0066t0010	a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 others(89): Show a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0043t0031g0044 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0109t0038g0013 a0001c0111t0045g0063 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0037t0009g0046 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0074t0041g0031 a0002c0075t0026g0051 a0002c0078t0044g0064 a0002c0084t0018g0087 a0002c0089t0001g0037 a0003c0014t0055g0056 a0003c0034t0030g0038 a0003c0058t0057g0117 a0005c0064t0051g0078 a0005c0065t0023g0050 a0006c0083t0004g0006 a0006c0116t0004g0039 a0007c0029t0011g0054 a0007c0088t0076g0057 a0008c0008t0082g0126 a0008c0067t0059g0079 a0009c0113t0011g0043 a0010c0112t0081g0090 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0018c0044t0064g0085 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0022c0013t0007g0112 a0023c0095t0002g0124 a0025c0096t0067g0116 a0026c0082t0052g0097 a0027c0023t0001g0052 a0028c0097t0018g0089 a0029c0028t0024g0040 a0030c0052t0049g0098 a0031c0069t0043g0100 a0032c0011t0065g0101 a0033c0042t0004g0004 a0036c0100t0017g0121 a0038c0066t0010g0032	92	126	0.7302	-340	c.415 others(19): Show c.415+55086_415+55425del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CYP4F11_chr19_15907377_15939529	15931809	GGAATGAG others(333): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0123 a0003c0003t0123	a0003c0003t0123g0095 a0003c0003t0123g0095	1	386	0.0026	-340	c.198 others(17): Show c.198+2062_199-2209del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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