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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
VAV2_chr9_133756894_133997324	133827201	GCATGGGC others(1241): Show GCATGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGC GGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG GGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGG GCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGC ATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCAT CACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCG CCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCC AGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG CTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTAC CGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCG CTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGC GCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGC CCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCC ACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCAC TGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTG AGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGG GCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGC TGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTG ACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGAC CACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCA CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGA GTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0089 a0001c0002t0036g0089	1	200	0.0050	-1248	c.449 others(17): Show c.449+5823_449+7070del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827226	TGCCCACT others(1241): Show TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCC CACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACT GAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGA GGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGG CTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCT GACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGA CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCA GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGGGGCTGACCACTGACCACGGGCATCGCCAGCTACCGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0002 a0005c0024t0002	a0005c0024t0002g0132 a0005c0024t0002g0132	1	200	0.0050	-1248	c.449 others(17): Show c.449+5798_449+7045del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
SNTG2_chr2_945849_1372613	1343087	CGGCAGCT others(1240): Show CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCA GCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGA AGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTT CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCAC TTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAG CTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAG AGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGT AGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGA CATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTG TTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCA CTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGG CACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	190	0.0053	-1247	c.148 others(21): Show c.1489-24179_1489-22933del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
FEZ2_chr2_36547258_36603168	36593183	AGGAGGCC others(1239): Show AGGAGGCCTCAGAATCATGGTGGGAGACAAAAGGCACTTCTTACATGGTG GCAGCAAGAGAAAAGGAGGAAGATGCAAAAGCAGAAACCCCTGATAAACT CATGGACAGCGGCCCTCTTCTCACAACCCCACTAGGCAGTGCCCCAGTAG GGACTCTGTGTGGGGGCTCCAACCCCACATTTCCCTTCCACACTGCCCTA GCAGAGGTTCTCCATGAGGGCCCTGCCCCTGCAACAAACTTTTGCCTGGG CATCCAGGCATTTCCATACATCTTCTGAATCTAGAAGGAGGTTCCCAAAC CTCAATTCTTGACTTCTGTGCACCTGTGGGCTCAACACCACATGGAAGCT GCCAAGGCTTGGGGCTTGCACCCTCTGAAGCCACAGCCTGAGCTGTACTC TCGCCCCTTTCAGCCACAGCTGGAGCAGCTGGTACACAGGGCACCAAGTC CCTAGGCCGCATACAGCAGGCAGACCCTAGGCCCAGCTCACGAAACCACT TGTTCCTTTTTGGGCCTCCAGGCCTGTGATGGGAGGAGCTGCCATGAAGG TCTCTGACATGGCCTGGAGACATTTTCCCCATGGTCGTGGGGATTAACAT TAGGGTCCTTGCTACTTACGCAAATTTCTGCAGCTAGCTTGAATTTCTCC CCAGAAAATGGGTTTTTTTTTTTTCTATCGCATAGTCAGGCTGCAAATTT TCCAAACTTTTATGCTCTGCTTCCCTTATAAAACTGAATACGTTTAATAG CACCCAAGTTACCTCCTGAATGCTTTACTGCTTAGAAATTTTTTCTGCCA GATACCCTAACTCATCTCCCTCAAGTTCAAAGTTCCACAAATCTCTAGGG CAGGGGCAAAATGCCACCAGTTCTCTTTGCCAAAACATAACAAGGGTCAT CTTTGCTCCAGTTCCCAACAACTTCCTCATCTCCATCTGAGACCACCTCA GCCTGGATTTTATTGTCCATATTGCTGTCAGCATTTTGGGAAAGCCATTC AACAAGTCTCTAGGAAGTTCCAAACTTTCCCACATTTTCCTGTCTTCTGA GCCCTTCAAACTATTCCAATCTCTACCTGTTCCCCAGTTCCAAAGTCATT TCCACATTTTCAGGTATCTTTTCAGCAACGCCCCACTCTACTGGTACTAA CTTACTATATTAGGTTATTTTCATGCAGCTGATAAAGACATACCCGAGAC TGGGAAGAAAACGAGGTTTAATTGGACTTACAGTTCCACATGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18956.hp2 NA18962.hp1 others(5): Show HG02080.hp2 NA18956.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18985.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0149 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153	8	404	0.0198	-1246	c.267 others(17): Show c.267-3418_267-2173del	FEZ2	ENSG00000171055.15	transcript	ENST00000405912.8	protein_coding	1/7			chr2	TogoVar
FEZ2_chr2_36547258_36603168	36593209	ACAAAAGG others(1239): Show ACAAAAGGCACTTCTTACATGGTGGCAGCAAGAGAAAAGGAGGAAGATGC AAAAGCAGAAACCCCTGATAAACTCATGGACAGCGGCCCTCTTCTCACAA CCCCACTAGGCAGTGCCCCAGTAGGGACTCTGTGTGGGGGCTCCAACCCC ACATTTCCCTTCCACACTGCCCTAGCAGAGGTTCTCCATGAGGGCCCTGC CCCTGCAACAAACTTTTGCCTGGGCATCCAGGCATTTCCATACATCTTCT GAATCTAGAAGGAGGTTCCCAAACCTCAATTCTTGACTTCTGTGCACCTG TGGGCTCAACACCACATGGAAGCTGCCAAGGCTTGGGGCTTGCACCCTCT GAAGCCACAGCCTGAGCTGTACTCTCGCCCCTTTCAGCCACAGCTGGAGC AGCTGGTACACAGGGCACCAAGTCCCTAGGCCGCATACAGCAGGCAGACC CTAGGCCCAGCTCACGAAACCACTTGTTCCTTTTTGGGCCTCCAGGCCTG TGATGGGAGGAGCTGCCATGAAGGTCTCTGACATGGCCTGGAGACATTTT CCCCATGGTCGTGGGGATTAACATTAGGGTCCTTGCTACTTACGCAAATT TCTGCAGCTAGCTTGAATTTCTCCCCAGAAAATGGGTTTTTTTTTTTTCT ATCGCATAGTCAGGCTGCAAATTTTCCAAACTTTTATGCTCTGCTTCCCT TATAAAACTGAATACGTTTAATAGCACCCAAGTTACCTCCTGAATGCTTT ACTGCTTAGAAATTTTTTCTGCCAGATACCCTAACTCATCTCCCTCAAGT TCAAAGTTCCACAAATCTCTAGGGCAGGGGCAAAATGCCACCAGTTCTCT TTGCCAAAACATAACAAGGGTCATCTTTGCTCCAGTTCCCAACAACTTCC TCATCTCCATCTGAGACCACCTCAGCCTGGATTTTATTGTCCATATTGCT GTCAGCATTTTGGGAAAGCCATTCAACAAGTCTCTAGGAAGTTCCAAACT TTCCCACATTTTCCTGTCTTCTGAGCCCTTCAAACTATTCCAATCTCTAC CTGTTCCCCAGTTCCAAAGTCATTTCCACATTTTCAGGTATCTTTTCAGC AACGCCCCACTCTACTGGTACTAACTTACTATATTAGGTTATTTTCATGC AGCTGATAAAGACATACCCGAGACTGGGAAGAAAACGAGGTTTAATTGGA CTTACAGTTCCACATGGCTGGGGAGGCCTCAGAATCATGGCAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp1 NA18955.hp1 others(2): Show HG02015.hp2 HG02083.hp1 NA18955.hp1 NA18979.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0154 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0296	5	404	0.0124	-1246	c.266 others(17): Show c.266+3422_267-2199del	FEZ2	ENSG00000171055.15	transcript	ENST00000405912.8	protein_coding	1/7			chr2	TogoVar
HNRNPF_chr10_43380618_43414186	43391144	CTAGCCGG others(1239): Show CTAGCCGGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGCATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCAA GATCGCACCACTGCACTCCAGCCTGGGCGACAGTGCAAGACTCTGTCTCA AAAAAAAAAAAAAAATTACCTGGACGTGGTGGTGGGCGCCTGTAGTCCCA GCCACTACGGAGGCTGAGGCAAGAGAATCACCTGAACCCAGGAAGCGGAG TTTTCAGTGAGTGGAGATCGCACCATTGTACTCCAGCCCGGGTGACGGAG CGAGACTAACTCCAAAAAAAAACCCACCACACAAGAAAAAAAAAAGAAAA TCAGAGTGAACAGCCATAGAGTAAGCGGGCCCTCAATATCGCCCACTGTC CTACCCCAGCACCCTGCTTGTCCAAAGCCCTTCAGATGTCTGGGGCAGCC TTACAGACTCTCACCTCCTCTCCAGCTGGTTGACATTACTCTTGGAAGTG GACTTTGTGAAGTCAAGTCAGAGTCCAGGAGTTTGTAAGCACGTAGTGGG CCCCTTACAGCGGACATCGTGAACAACAGCTCTGCTCTGGGTCCAACCTC ACATACCCCGGAGCCATGCTTTCTTCTTTTTTTCCTTTTCCCCTTTCTCC ACTGAGCCCTGTCTACTTGGTAATTAAACATGCTCAGTTCTACCCAATCA TGTCATACCTCCCCTGTGCCAACTTTGCCTCTAGCTACTTGTTGATTTGT TCAGCAAAATCTTGTCAAAAGGCCTCTACTGTCACTTCCACTCCCCTCCA TTAAAACTGCATGATCAAGGCCACGTGTGGTGGCTCACCGCCTGTAATCC CAGCACTTTAGGAGGTCAAGGAGGGTGGATAACCGGAGCCAGGAGTTCAA GACCAGCCTGACCAACATGGTGAAATCCCGCCTCTACCAAAAATACAAAA ATTAGCCGAGCATAGTGGTGGACACCTAGGTTGAGCGCAGTGGCTCACGC CTGTAATCCCAGCACTTTGGGTGGCCAAGGCAGGCAGATCATTTGAGGTC AGGAGTTCCAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAA AAATACAGAAAAATTGGCCGGGCACAGTGCCTCACACCTGTAATCCCAGC ACTTTGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	364	0.0028	-1246	c.-53 others(17): Show c.-53+2240_-52-3209del	HNRNPF	ENSG00000169813.17	transcript	ENST00000682386.1	protein_coding	3/3			chr10	TogoVar
SLC9A4_chr2_102468226_102538972	102493191	TTCTGAGC others(1238): Show TTCTGAGCCCTTCAAATTGTTCCAAATTCTGCCTGTTACCCAGTTCCAAA GTCACTTTCACATTTTTGGGTATCCTTATAGTAGTACCCCACTCTACCTG TACCAATTTACTGCATTAGTCCATTTTCATGCTACTATGAAGAAATACCC AAGACTGGGTAATTTATAAAGGGAAAGAGGTTTAATTGACTCACAGTTCC ACATGACTGGGGAGGCCTCACAATTATGGCAGAAGGCAAAGGAGGAACAA AGTCACGTCTTACATGGTGGCAGGCAAGAGAGCATGTACAGGGAAACTGC CCTTTATAAAACCATCAGATCTTGTGAGAACTCACTCACTATCATGAAGA CAGCATGGAGGTAACCATCCCCATGATTCAATTACCTCCCACCATGTCAC TCCCCTAACACATAGGGATTATGGGAACTACAATTCAAGAAGAGATTTGG GTGGGGACACAGCCAAACCATATCACCACTCCAGTTAGCTTCCATATCAT CCACTCAATTATCCTTTCCCTACTCTTAGTTTCTATTTTTCAGTTTTTCT GTCCCACAACTCATAGTTGTTCATGGTCCCTCATTGTCCCTTAATCTATC TCATTGTATTTATCTAGTCATCTATTCCAAATCAATTATGTTTGTGACAG AAAAAACAGTTACCATAACTGCAAGCTGGGCAGAGTGTTTCACCTCAGAC TACTTCCCAGACCCCAGTCTATAGACAGACTTCTTGAGGGTCTGTCTACT CTCACCCCTGAGTAGAAAGTCCCCTGTTAAAAGTAATGTAGTCAAACAAG ACTAAACCCTTCCTCAGATGCTATGTCATAGAATTTACCCTTACAGGGAT CCATGTGCATGGTGGGGACCATAACTATCATGACTAGGAGGGTTGGTGGT CACAAAGAAAGGCAATTAATTATGATTATGGCCTCAGCTATCAGTGTCAT ATGAATCCATAAGATTTAATATTATGACTACAAAGAGCCTTCTTACTTTG GTTCTTAAGGACAGTTAAAAATCAGTACATTTAATGAACTGACATGGCTA TAAGGTTTCTTTATTTTATATGAACTGGTATAATGTTAGCCAAAAGTATA CTGTAAAAAGTTAAGGATGTTACTGTAGAGCACCACTAAACATGATGCAA AAAATCTGGTCAATAGATAAAATTAAAATAGAATTCTAACAAGTATTCAA TAAATAAAAATGAATGCAGGAAGAGACAATAAACCAGGAGTGAAGG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02886.hp2 HG03209.hp2 HG01261.hp1 HG02886.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0012 a0001c0005 a0002c0012	a0001c0005t0026 a0002c0012t0011 a0001c0005t0026 a0002c0012t0011	a0001c0005t0026g0052 a0002c0012t0011g0053 a0002c0012t0011g0054 a0001c0005t0026g0052 a0002c0012t0011g0053 a0002c0012t0011g0054	3	382	0.0079	-1245	c.721 others(18): Show c.721-10256_721-9012del	SLC9A4	ENSG00000180251.5	transcript	ENST00000295269.5	protein_coding	2/11			chr2	TogoVar
SNTG2_chr2_945849_1372613	1343274	CCCCTGTT others(1238): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCAC TTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAG CTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAG AGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGT AGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGA CATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCT GGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAAT TTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTG TTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCA CTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCG CACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAG CAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGG AAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG04115.hp2 HG02145.hp1 HG02258.hp2 HG04115.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0004 a0001c0002 a0004c0004	a0001c0002t0001 a0004c0004t0001 a0001c0002t0001 a0004c0004t0001	a0001c0002t0001g0112 a0004c0004t0001g0150 a0004c0004t0001g0151 a0001c0002t0001g0112 a0004c0004t0001g0150 a0004c0004t0001g0151	3	190	0.0158	-1245	c.148 others(21): Show c.1489-24065_1489-22821del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11A_chr13_112685038_112892168	112864142	CCAGCGGG others(1237): Show CCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGCACGTGCAG CTTCCCAGCGGGGTCCATCACCACATGGGCAGTAATTCAGTGCGGCCCAT GCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCGGC CCATGCAGCTTCCCAGCGGGGTCCATCACCACATGGGCAGTAATTCAGTG CAGGCCATGCAGCTTCCCAGCGGGGATCATCACCACGTGCGCCATAATTC AGCGTAGCGCGTGCAGCTTCCCAGCGGGATCCATCACCACATGGGCAGTA ATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACATGCAC AGTAATTCAGTGCAGCCCGTGCAGCTTCCCAGCGGGGTCCATCACCACCT GCGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCATCACC ACCTGCACAGTAATTCAGTGCGGCCCATACAGCTTCCCAGCGGGGTCCAT CACCACATGGGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGT CCATCACCACCTGCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCAGCG GGGTCCATCACCACCTGCACAGTAATTCAGTGCGGCCCATGCAGCTTCTC AGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGCCCATGCAGCT TCCCAGCGGGATCCATCACCACCTGCGCAGTAATTCAGTGCAGGCCTGCG CAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCGGCC CATGCAGCTTCTCAGCAGGGTCCATCACCACCTGCACAGTAATTCAGTGC AGCCCGCGCAGCTTCCCAGTGGGGACCATCACCACGTGCGCAATAATTCA GCGTAGCACGTGCAGCTTCCCAGCGGGATCCATCACCACATGGGCAGTAA TTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCA GTAATTCAGTGCAGGCCCGCGCAGCTTCCCAGCGGGGTCCATCACCACCT GCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCAGCGGGATCCATCACC ACATGGGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCAT CACCACCTGCGCAGTAATTCAGTGCAGCCCGTGCAGCTTCCCAGCGGGGT CCATCACCACATGTGCAGTAATTCAGTGCAGGCCATGCAGCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0010 a0002c0010t0010	a0002c0010t0010g0222 a0002c0010t0010g0222	1	254	0.0039	-1244	c.299 others(19): Show c.2991+1587_2991+2830del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAPTM4B_chr8_97770788_97858013	97849837	CTGTGTGT others(1237): Show CTGTGTGTTTCTGCAGTGTTCAGATCTTGCTGGCAGTGCTCCCCAGGGCC CAGTGCGAGCGGAGACAGCGGTGGCAGCGCCTCTCAGGCGGTTTCCAGAG CGGGCCGTGGCTCCCGGGAACGGCTTCCCGCAGGTGATTCTGTGCACACT GGCCTCTACCTGGTTCAGCGGGAAGCCTCTCCACTGTCCAATGGGCTTCA GCCACACCCTCCCTAGCCGTGTCTCAGCCCAGCCTTGGGGACCTCTGTTC TAGCTTGTTCCGTCCCTGAGTGCCGTACTTCAATCTTCTTATCCATTAGT GCTCTTTCCCCGCCATGAGTCAGTTCCCGGTTCCTCAGTCTCCTGTTAAT AATTCTTCATGAAACTATATTCACATCACTGTGTGGCTTCTGTGTTCTGA CTGGACCCTAGCCAGTACAGGTGCCCTCTGCCTAGGCAGCTGAAGGAACC ATACAGGCTTTTCGGGGGCCGGCCTAAGTGGCACCTCCGTCACTCCGCAA ACATCTGAGTTCCTGCTGTCGGATAGGCACTGGCCCACCCTCGAGGAAGT GAGACCTGGCTTCAGCCCCACAGGAGCTCCAAGACTGGGAGGAGAGAAGT AATGAAGTGTGTAGAGCTGGAGAGGAGGGGTGTGTGTGTGTGTGTGTGTG TGTTTGGGAGAGTGCAATGTGACAAAAACTTAACAAAATTTTAGTGTGGT TCTAGTAGGAGCTAAAGGGACAGATAAATGAAAATTAACAAAATTGATGA ATACCACTTTAAGCATAAGTGATATCCCTGATAGAAAATCTAACCAAGTG TGGTTTTGTTTGTGAATAGTCTTTCCCTTTCCACAAATCACTTGAGGTGG GTGAGGTTTTGTTTTGTCTTCTCATCTCTGAACTCCTAAAGGGCAGGGAC TGTCTTTTGTCTCAATTATCTTATACTCACAATGACTATTACATACTAGA TGCATAATAAATGTTAGTTTACTGAATGAAGGGTGATATAACTATTCTGT ATTCCATTTTCTACTCCAAGAAAGCCGAAATCAGCCAGTGTATAGACCGC CAACTCTGAGGTATCCTTATTTCATAGACATGGAAACTGATGTTAAGGAA CTTACCCAAGGCTACGCTGATAAAATGTGACTGACCCAGGCTTTGAATCC AGGCTGATACCAAAAGCTTGGCGTTTTCACTGCACTTTGCAGTTCTCACC ATGAGTGGTTACTGTAGTCAATCAAGTGCCTGCCCTATTTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02886.hp2 others(3): Show HG02145.hp2 HG02647.hp1 HG02886.hp2 HG03486.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0027 a0001c0001t0006 a0001c0001t0027	a0001c0001t0006g0042 a0001c0001t0006g0083 a0001c0001t0006g0119 others(3): Show a0001c0001t0006g0042 a0001c0001t0006g0083 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0128 a0001c0001t0027g0302	6	380	0.0158	-1244	c.604 others(16): Show c.604-1557_604-314del	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NLRC4_chr2_32219453_32269886	32253978	AAAAAAAG others(1237): Show AAAAAAAGTACGTGCTGCTAAATGTTTCACAAACTGGCCCTGGCCCTCTG GGAGTAAAGGCCCTAATTTGTAGCATTCACCAATCCCCAAGGTATAAATA TTCCTACCATGGCCTATTTCAAGCTAACAGCGTATGTTAACTGGCTAACA AAAATCCTGAAAATTCAATAATCAGGTTTCACATCACAGTAACAACCAGC TCCAGCACACTGGGGATTCCTCATCTGTACAATGGTGTCAAGAGCATTAT TTAACTTAGGAAGTTGTTACAATAATTCATGTATAGTATCTCATACAAAG TAATAACTCAATATATGTTAGCTACTATTTTTAGCCTTTATTCAGGTGTC ACCAGACAAAGAGCACATTGTATCTCCACAGACTTTGGTCTTTTCTGAAG AGTATCACATCAAAACACTGGTTTTTATCCAATGTAAGCTCTCTCGCCAG GTCTTGAGGGTAGCTGTGTCCTTTTTGTGTCTGACTCTGCAAGGTCTAAT TCTGAAACGTAGACCACACCGTACCCAGGCACTGTACCCACGCTATGTTT GTGACAGCTTGGAGAAATGTCTTCCTGGTTTTTAACTCTCAGACACCGTC TGCACTAGATTTCTTCCTGGGCTAGGCTGCTCCTGGTTTTTTTTTTTTTT TTTTTTTTCAGACGAAGTTTCACTGTTGCTGCCCAGGCTGGAGTGCAATG GCGCGATCTCAGCTCACCACAACCTCTGCCTGCCAGGTTCAAGCAATTCC CCTGCCTCGGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCCACCACAC CCAGCTAATTTTGTATTTTTAGTAGAGATGAGATTTCTCTATGTTGGTCA GGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGTCTCAGCTTCCC AAAGTGCTAGGATTACAGGCATGAGCCACCGCACCTGGCCGCTCCTGGCT TTCAAACCTGTGTTGACTGATCAGAGAGGGAATGCACTCCTCTCAAAGAC CCCAGAACCTCTCTGGCCTGAAATGCACCATCAATCACTCCAAGCACCAG GACCCCACCCCAGCCGTCCTTTCTCACCATTGCAGAGCTCTGCTGCTGAC CTCAGCTAGAATATTCCCTGTCTACATGTCCTGCAAGAGTCCCATCTCTC TCCTTCTGGGGTCTCATCTGTTCTCTAGCTTCCACATCATCCCTATGGAA GTAACCTCTAAGTCTGTGTCCCATTGTGATCTTCAGTTTAGAGCT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp2 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0386 a0001c0003t0001g0387 a0001c0003t0001g0386 a0001c0003t0001g0387	2	394	0.0051	-1244	c.1+1 others(13): Show c.1+1553_2-1300del	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	2/8			chr2	TogoVar
ADARB2_chr10_1172313_1742525	1237976	GCCTCCCG others(1236): Show GCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCT GCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCC GGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCC TCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0003t0032 a0001c0001t0030 a0001c0003t0032	a0001c0001t0030g0034 a0001c0003t0032g0071 a0001c0001t0030g0034 a0001c0003t0032g0071	2	106	0.0189	-1243	c.136 others(19): Show c.1361+2912_1362-4132del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
FOXN3_chr14_89151177_89422233	89360723	ACCACCAC others(1236): Show ACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACC ACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACC TCCACCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGCACCAC CTCCACCACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACTA CCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGC ACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGC ACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAG CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCT CCACCACCACCTCCTACCACTACCACCTCCAGCACCACCTCCACCACCAC CACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCA CCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACC ACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACC TCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCAC CACCTCCAGCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCA CCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACC TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCAC CACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	230	0.0044	-1243	c.544 others(18): Show c.544-11158_544-9916del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
RPUSD2_chr15_40564299_40579949	40578378	TTTTTTGT others(1236): Show TTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACTGCGCCCGGCCTTTTTTCTCTTTTTGAGA CAGAGTCTCGCTCTGTCGCAAAGCCTGGAGTGCAGTGGCACTGTGTCGGC TCACTACAACCTCCGTCTCCTGGATTCAAGCAATTCTTCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAGGCGCCCACCACCACATCCAGCTAATTTTT GTGTTTTTTAGTAGAGACTGGGTTTCCCAATGTTGGCCAGGCTGGTCTTG AACTCCTGACCTCAGCTGATCCACCCACCTTGGCCTCCCAAATTGCTGGG ATTACAGGCCTGAGCCACCGCGCCTGGCCCTTGCCCTGCATTTCTGCTTG TTTCTTGCCCTGCATTTCTGCCTGGACAGCCCTTTGACTTCTGCTCAGGC AGAAACCTTTTCTTTCCTGTTCCTTCTGTTGTACACCTGTCATGTATTTC CTATTTCGTTGGAGTACTCATAAAGAGAACCATGGATTTTTGTTTTCAGG TAACTTCATGGTGAATAACAAAGGCTTATTCATACCGAATCCATTGCCTT TGACCAGAACATATGGAGCAGAAGTAGTGTAGGCGGGGAAAGCAATTGTG TTTATATTCTTTTAGTGGTTCATATTGGTCGTTAACCACCTACTATATGC CAAACATTATTTATTGCTGGGATACAGAGATGAATGGCTGGCCCCTGCCC TGTTAGAACACACATGATGAAATGTGCAAGTACAAAGGGAACCAGTGGAA ATATGATATAATTCTGTCTGGAAGTACTAGCATAGATTTCCCAGAGAAAG AGGCATTTAACAGTGAGTTAGAATTTGCCTACTAGAGATATAAGAGGATT CCAGATAGAGGGACAATTTGAGAGAAGGTGGTCATATTCTAGAACTCGAA AAGACAGAGGAGGAGACACCCAAGGAGAGCGTTTAACCCTGGGGCTCTAG TATATGTCTCCCTATCACTTACTATTGAAGCCTTTTTTTTTTTAAATTTG AGACGGAGTCTTGCTCTGTTACCAGGCTGGAGTGCAGTGGCGCAATCTCA GCTCACCGCAACCTCCGCCTCCCGAGTTCAAGCAATTCTCCTGCCTCAGT CTCCCGAGTAGCTGGGACTACAGGTGCACACCACGCCCAGCTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	392	0.0051	-1243	c.41 others(11): Show c.4118_*5360del	RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding		3430		chr15	TogoVar
DLGAP2_chr8_732628_1713476	991497	AGACCCCC others(1235): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCC CCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAG ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCC TTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0030 a0002c0001t0019g0030	1	40	0.0250	-1242	c.73+ others(17): Show c.73+83585_73+84826del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RASA3_chr13_113972783_114137623	114085103	GTCCTCGC others(1235): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCT GGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGA GTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTG CTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGA AGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCG GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAAT CCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGG AAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	67	0.0149	-1242	c.56- others(17): Show c.56-12508_56-11267del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
ARHGEF10_chr8_1818926_1963641	1889417	GAGTGGGG others(1234): Show GAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTG TGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGG GTGAGGGGTATTGAGGAGACACTGAGTAGGGTAAGGAGTCTGTGTGGAGA CACTGAGTGGGGTGAGGGGTTTGTGAGGAGACACTGAGTGTGGGTGAGGG GTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAGT GGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGGTTTGTGAGGAGACCC TGAGTGGAGTGAGGGTTGCGAGGAGACATTGAGTGGGATGAGGGTTGTGA GGAGACACTGAGTGGGGTGAGGGTTGTGAGCAGACACTTCATGGGAGGAG GGTTTGTGAGAAGACACTAGGTGGGGTGAGGTTTGTGAGGAGACACTGAG TGTGGTGAGGGTTTGTGAGGAGACACTGCATGGGGTGAACTTTGTTAGGA GGCAGTGAGTGGGGCGAGGGTTGTGAGGAGACACTGAGTGGGGGAGGGGT ATGTGAGGAGACACTGAGTGATGTGAGCAATCTGTGAGGAGACACTGAGT GCGGTGAGGGGTATTGAGACACTGAGTGGGGTAAGGAGTCTGTGCGGAGA CACCGAGTGTGGTGTGAGGGGTCTGTGAGGAGTCACCGAGTGCCGTGTGA GTTGTGAGAAAACGGAGTGGGGTGAGGGTTTGTGAGGAGACACTGAGTGG GGTGAGGGTTTGTGAGGAGACACTGAATAGGGTGAGGGTTGTGAAGAGAC ACTGAGTGGGGTGAGGGTTTGTGAGGAGGCACTGAGGGTTGTGGATTGTG AGGAGACATTGAGTGGGGTGAGGGTTCTGAGGAGACACTGATGGGGTGAG GGTTGTGAGCAGATACTGAGTGGGGTGAGAGTTGTGAGGATACACTGAGT TGGGTGAGGAGTCTGTGAGGAGACACTGAATTGGGTGAGGGTTGTGAGAA GACACTGAATGGGTTGAGGTTGTGAGGAGACAGTGAGTGGGGTGAGTGTT GTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATTCTGAGTGGGG CGAGACGGGTCTCTGAGGAGACACTGAGTGGGGTGAGAGTTTTGAGGAGT CACTGAGTGTGTAAGGGTCTGTGAGGAGACACTGAGTTTGGCGAAGGTTA TGAAGAGACACTGAGTGCAGTGAGGGTTGTGAGGAGACACTA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	363	0.0028	-1241	c.118 others(19): Show c.1182+3720_1183-2902del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
BATF2_chr11_64982945_65001971	64983922	ATTGTACC others(1234): Show ATTGTACCTTCTCCACCCTGACCCTCTCAATTCCTCTTTTCTTGTCTTAC CCCTCTTGACCCAGCTTCCCTATTAAATATAAGCATTTTTGTCTGTTTTG TTCTCTTCTTTATCCCAAATGCCTAGGATAGTGTTTGAAAAGAGGAGCTG AATATATTTTAAATGAATTTAAAAATCAGAGGCTGGGCACGGTGGCTCAC GCCCGTAATCCCAGCACTTTGGAAGGCTGAGGTGGCTGGATCAATTGAGG TCAGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCCCTACC AAAAATATAAAAAATTAGCTGTGCGCGGTGGCAGGCACCTGTAATCCCAG CTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGA TTGCAGTGAGCCAATATCGTGCACTGCACTCCAGCCTGGGCAACAGAGCA AGACTCCGTCTCAAAAAAAAAAAAATCAGTGTACATCTCTGTTTAAAATT CTCCCACTCACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTG TGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCA CCACTGTACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAATTCTCCCACTCACACAGGAAGAATCTCACATCCTTCTCATGGC TTACACAATTTTTCTGGCCTCTTCTCAGACTTCATCTTTCCTTTTCTCTT CCCTGATTCTCCTCCTCCTTTCTTTTCTCTTCTTCTTCTTCTTTTTTTTT TTGAGACAAGTCTTGCTCTGTCACCCAGTGTGCAGGGGCATGATCATGGC TCACTGTAGCCTTGACTTCCTGGGCTCAAGCAATTCTCCCATCTCAGCCT CTCGAATAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTCTT TGAATTTTTAGTAGAGACAAGGTCTTGCTTTGTTGCCCAGGCTGGTCTCA AACTCATGGGCTCAAGCCACCTCGGCCTCCCAAAGTGCCGGGATTAGAGG TGTGCACCACTGCGCCCAGCTGGCCTACTCCTTTCTGTTCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02976.hp2 others(1): Show HG02280.hp1 HG02451.hp1 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0013g0052 a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0013g0052	4	404	0.0099	-1241	c.39 others(11): Show c.3966_*5206del	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4022		chr11	TogoVar
AHRR_chr5_316714_443285	357468	GGAGTGGA others(1233): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAG TGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTG GAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAG CGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCG ACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACA CGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGA GGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCG CCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGAC TGAGGAAGAGCGCCCGGGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGG GCAGTCAGCGACTGAGGAAGAGCGCCCGCAAGTGGAGGCCCTCAGTCACG GAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20129.hp1 HG01175.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0004 a0001c0001t0001 a0003c0004t0004	a0001c0001t0001g0025 a0003c0004t0004g0003 a0001c0001t0001g0025 a0003c0004t0004g0003	2	268	0.0075	-1240	c.244 others(17): Show c.244+3605_244+4844del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DPH7_chr9_137549444_137583925	137565690	ACTCTGTC others(1233): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	340	0.0029	-1240	c.641 others(16): Show c.641-1776_641-537del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
SMOC2_chr6_168436184_168672992	168572119	GCATCCCC others(1233): Show GCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTT CATTTCCTCCCCGCATCTCCGGGTGCCGGGACCAGGGCTGCGTGGTCCCT GAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGC TGCGTGCTCCCTGAACGCAATGTTCACTTTCTCCCCGCATCCCCGGGTGC CGGGACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGC ATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCA TTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGA ACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTG CGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCTG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACTTCCTCCCCGCAT CCCCGGGTGCCGGGACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCATT TCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAAC GCGATGTTCATTTCCTGCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCG TGCTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCCCCGGGTGCTGGG ACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCT CCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCACTTC CTCCCCGCATCCCCTGGTGCCGGGACCAGGGCTGCGTGCTCCTTGGACGC GATGCTCATTTCCTCCCCACATCCCCGGGTGCTGGGACCAGGGCTGCGTG GTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCGGGGAC CAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCTTCCCACATCCCC GGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAATGCGATGTTCACTTCCT CCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCTTGGACGCGA TGCTCATTTCCTTCCCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGT CCCTGAATGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCA GGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01081.hp1 others(20): Show HG00280.hp2 HG00558.hp2 HG01081.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02129.hp1 HG02559.hp1 HG02630.hp2 HG02895.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG04199.hp2 NA18522.hp1 NA18941.hp2 NA18951.hp2 NA18963.hp1 NA19000.hp1 NA19068.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0003t0001 a0001c0013t0002	a0001c0001t0001g0077 a0001c0001t0001g0127 a0001c0001t0001g0136 others(20): Show a0001c0001t0001g0077 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0006g0128 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0002t0014g0005 a0001c0003t0001g0155 a0001c0013t0002g0033	23	180	0.1278	-1240	c.637 others(19): Show c.637+22930_637+24169del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM269_chr1_42779991_42805827	42804588	CAACCTTC others(1232): Show CAACCTTCCAGCGTGGGTGTTGTGACCATCATAACATGTCACAGTGCTGC AGAGATTTTGTTTGTGGCCAGTTTTGGGGCCAGTTTATGGCCAGATTTTG GGGGGCTTGTTCCCAACACTCCTGAGTAGCTAGGACTACAGGCGCCCGCT ACCACGCCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACCGGGTTTCAC CCTGTTAGCCAGAATGGTCTTGATTTCCTGACCTCGTGATCCACCCGCCT CGGCCTCCCAACATGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCC CACATGTGGTATTTTCTAATTTGTTATTTCATTAAAAAGAAAAGCTGGTC ATAATTTACTAAACTGATTTTACAACCACTTGTGCCCTACTAGAGTGTTT CTCCACGACAAGAATATACCCAAGGCTGAGAGATGTTAATACAAGCAGTT CCCAACTAAGAATCTTTCCAGACAATGATCATGTCTTTCCTGGTTATGTG AAATCTGAAAACATTTCCCATGAAACAATCTGAAAGGTGGCTGGGAAGGG AAGTAACATTTTCTGAGTGCTATGGTTTGAATATGTCCCCCAAAGTTCGT GTGTTAGAAATAATCCCCAATGCAACAGTGTTAAGAGGTGGAAACTTTAA GAGATGATTAGGTTATGAGGGCTCTGCCATCATGAATGATTAATGCTGTC TGTTATTGCTGGAGTAGGCTAGTTATCTTGGGAGTGGGTTCCTAATAAAA GGCTGAAGTTTGGCCTCCTTCTTCTTCCGTTGCCCTTTCACCTTCAGCCA CAGGATAATGTAGCAAGATGGCCCTCAGCAGATGTGGGCCCCTCCACCTT GGACATCCCAGCTTCCAGAACTGTAAGAAACCAATCTCTGTTCTTCATAA ATTACCCAATCTAGGCCAGGTATGTTGGCTCATCCCTGTAATCCCAGTAC TTTGCGAGGCTGAGGCGGGTGGATCACTTGAGCTAGGAGTTTGAGACCAG CCTGGGCAACAAAGTCAGACCCTGTCTCTACAAAAAAATACAAAATTAGC AGGTGTGGTGGTGCAAGCCTGTGGTCCCAGCTACCCAGGAGGCTGAGGTT GGAGGATGGCTTGAGCCAGAAAGCAAAGGTGCAAAGGTTGCAATGAGTCG AGATCGTGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACCCTGTCTC AAAAAACCAACCAACCAACCAACCCACAAAAACCATACCC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0107 a0001c0001t0006g0027 a0001c0001t0005g0107 a0001c0001t0006g0027	2	410	0.0049	-1239	c.63 others(11): Show c.6364_*7602del	TMEM269	ENSG00000274386.6	transcript	ENST00000637012.2	protein_coding		3762		chr1	TogoVar
ATP9B_chr18_79064394_79383283	79297746	ACTTAGGA others(1231): Show ACTTAGGATTTCATGTTTCGCCTTGATAAGACTCTACACTGTCGTGTAAT AATTGTATCTAATGCTGGCCTGATCTGTAATTAGGAAGGAAACACTGCAA TGACCTTAACAGAACAGCCCTGGGTATAAAGAGCAGGAAGGGATGCAGAA AAGCATATGACAAATGTAGCCCTCATTCATGCTTTAAGAAGAAAACTCGG AAAACAAGGATTAGAGGGGAACATCCTCAGGTTGCTGAAGAGAATCTTAA AGAGCTGAGGCTGAGGCCTCACTCTGTGTGATGGAGACGCACGCTTTCCC TAGGTCAGGAAGGAAGCGAGGGTGCTTGTCCAACAGTGCCAGCATTCCAG ACAGTGCAGTACGGTAAGAAAGGGGAATGCAAGGTATGGATATCAGAAAG GAAGAAATCGAGTTAAAATTAAAGAAAGAAAATTGTCCCTGTCTGCAGAT GGAATAATTATCTACCTAGAAAATCCAAGGAATGTACAAAAAATTCTGTG AGCCAGTGAGTTCAGCAGGGTCACAGGGTAGACTGTCCACATGCAGAAAC CAATGGTGTATCTACACTTGCAGTGAATATGTGCCAGCTGAGATGAAAAG TACGGTGCCGTTTATAATTCCTTGAAAAAAGCGCGGTACTTAGCCGTGAA TCTAATATAAAATGAGTGGGCCTTGTGGGCTGCAAACTACGTCACACTCA TGAAAGAAACCAAAATAGACCGAAATAAACACAGTGATTTTGCTCATGGA CCTCAAGTCTCCACACACTAAAAATGTCACTTCTCTTTTCGATATTCAGT TTAATTCAGTTTCTGTCAAGATTTGTTTTGTAGGTAAGATTATTTCTAAA TTTATTTTTAAGGCAAAGGAGCAGGATAGCTGAAGTGACTTTGACAAAGA AGAAAGTTGAAGGACTCACTACCAGATTTCAAGACTTAAATAAGCTGCAG TCATCAAGACTGTGTGGTATTGGGGGATTTTTCAATGGATACAGAACCTA GAAGTTGGCCTTGCACCAAAGAGGATATGGGAACAGAACATCAGTATGAG GAAAGATGTTCCTCCTTCTCAGGAGGCAGAGTGGCTGTCCCATAGCCACT TCAGACTCACCATCTGTGTGTTCTCCCCTTCTCCCAAAGCTGTCTACTTT CTTAATTCCTGTTTCTTGTTGAGGGCCAGCCTCCCTGAGCAAGGCAGTCA GCCTGAGCTGCTCTTCGAGGTCTTGGATCCGGAGCCTCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(45): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01106.hp1 HG01261.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02615.hp1 HG02698.hp2 HG02976.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0012 a0015 a0016	a0001c0003 a0001c0004 a0001c0006 others(5): Show a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0006c0012 a0012c0018 a0015c0027 a0016c0028	a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 others(10): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0006t0003 a0002c0002t0003 a0002c0002t0014 a0006c0012t0003 a0012c0018t0002 a0015c0027t0003 a0016c0028t0012	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 others(45): Show a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0110 a0001c0004t0003g0120 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0002c0002t0003g0198 a0002c0002t0014g0187 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0012c0018t0002g0114 a0015c0027t0003g0139 a0016c0028t0012g0144	48	298	0.1611	-1238	c.141 others(19): Show c.1412-5857_1412-4620del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/29			chr18	TogoVar
DCX_chrX_111288779_111417192	111314868	CAAAATGT others(1231): Show CAAAATGTTAAGGGTCGCAAAAATTTTTTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTC AAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAA GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAAC ACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAA ACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAA GTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTT TACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTG TGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAT CCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAG ACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT TGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTG GCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCA TATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAA CTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG GAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCT GGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATA TACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCAC ATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAAC TTAGAGTATAATAAAAAATAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02965.hp1 HG02976.hp2 others(1): Show HG02897.hp1 HG02965.hp1 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0046 a0001c0001t0047 others(1): Show a0001c0001t0014 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048	a0001c0001t0014g0048 a0001c0001t0046g0002 a0001c0001t0047g0035 others(1): Show a0001c0001t0014g0048 a0001c0001t0046g0002 a0001c0001t0047g0035 a0001c0001t0048g0036	4	183	0.0219	-1238	c.947 others(17): Show c.947-3370_947-2133del	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding	5/6			chrX	TogoVar
MTA1_chr14_105414827_105475729	105428173	CAGCCCCC others(1231): Show CAGCCCCCTCTTCTCCCCCAGCTCCCAGCAACACTGACCTATTTTCTGTT CCTGCCGTTTTGCCTTGTCCAGAATGTGGTAGAAGTGGAATTGCACAGCA TGTGGGCTTTTGAGTCTGGCGTCTTTCTTTTTTTTTGAGATAAGGTCTCA GTCTGTCACCCAGGTTGGAGTGCAGTGGTACAGCCATGACTCACTGCAGC CTCCACCTCCCAGGCTCAAGTGATCCTTCCACCTCAGCCTCCTGAACAGC CGGGACCACAGGTGTGCACCACCACACCCAGCTAAGTTTTTCGTTATGTT GTCTAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCCTCCCACTTCGGA CTCCCATAGTGCTGAGGTAACAGGAGTGAGCCACCATGCCCAGCCTTATA GTAATTCTTGAAATCAAGTAGTAGGAATCCTTGAACTTTGTTCCTCATTT TCAAAATTGTTTAGCCTGTTCTGGTTACTTGGCTTTCCCTTACAGAGTTT AGAATTGGCTTGTTAATTTCTACAGAAACCAAAAAGAAGTGTTTCTTTTT TTTTTTTCTTTTTTTGAGACAACATCTTGCTCTGTTGCCCAGGCTGGAGT GCAGTGGTATGATCTTGGCTCACTGTATGTAGCCTCAGTCTCTTGGGCTC AAGTGATCCTCCCCACTTCAGCCTCCCGAGTAGCTAGGACTACAGGCATA CGCCACCATGCCTGGCTAGTTTTATTTATTTTTGTAGAGATGGGGTCTCA CTATGTTGCCCACACTAGTCTCAAACCCCTGGCCTCAAGTGATCCTCCTG CCTTGACTCCCAAAATGCTGGGATTACAGGCATGAGCCATTGTGCCCAGC CTCACCTTGCACTTTTATGTGGTAGAAATGGCTTCTTTCCTTGAACTTCA TGGGCCAACTTCTGCTAGCTTCAGATTTTTCTTCTGCAGCCTCCTCACCT CCCTCAGCCTTCGTAGAACTGAAGGGAGTTAGGGCCTCGCTCAGGCTGGG GCTCTGGCTTCGGGGAATGTGTCCGCTTTGATTTCCCATCCCGGCACTTC AGCTTTCTCTCTATCAGTACTAAGGCCGTTCAGCTGTCTTATCAGGCTTG TGTTCACTGGAGCAGCACTTTTTGTTTTTTGGAGATGAAGTCTTGCTCTG TCGCCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCGCTGCAACCTCCG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0012 a0003c0008t0001g0012	1	304	0.0033	-1238	c.28+ others(15): Show c.28+8113_29-9259del	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRGAP2B_chr1_144882288_145100328	144882440	GCAAAAAG others(1231): Show GCAAAAAGCCGCGGCGGGGAAAAAGCCGTGGTGGCAGGGGGCAAACAGCC GCGGCGCTGGTGGGGCAAAAAGCCGAGACGCGCAAAAAGCTGCGGTGGCG GAGGCAAAAAGCGGTGGGAGCAAAAAACCATATAACGTCGCGGCGGCGGG GGGCAAATAGCCGCGGCGGCGGGGGCAAAAAGGTGCAAAAAGCAGTGGTG GCGCGGGCAAAAAGCCACGGCGGCGGGGGCACAAAGACGCAAAAAGCCGC GGCGGCGGGGGGGGGGGGAGGGGTGGGGGAGGGGCGACAAAAAGCCGCGT CCGCAGGGGGGAAAAATCCGGGGGGGCAGGGGGGCAAAAAGTCGCGGCGG CGGGGGGCAAAAAGCTGTGGCAGCGGGGAGGCAAAAGCCGTGGGGGGCGA AAAGCCGCGGCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAAAGCCGCGG CGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAAAG CCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGGAGGCAAAAAAA GCCGCGGTGGCAGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCCTGGGGG CGGGGGGCAAAAAGCCACGGCCGGCAAAAAACCGCGGCGGCAGGGGGCAA AAAGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGTGGGCAG AAAGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAGCCGCGG CGGGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGGGGGTGC AAAAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAAG GCCGGGTCGGGCAAAAAGCCACGGCGGCGGGGGTGCAAAAAGCCACAGCG GCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGTGGGGGA AAAAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGGCGGGGGGGCAAAAA GCTGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGCAAAAAGCCGTGGTG GCGGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCAAAAAGCCGGGGCGG GCAAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGGGGCGGGCAAAAAGC CGGGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAAAAAGCTGGAGCGGG TAAAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	56	0.0179	-1238	c.84 others(11): Show c.8482_*9719del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4847		chr1	TogoVar
ITPK1_chr14_92931914_93120925	92977548	GGGGGAGG others(1230): Show GGGGGAGGACCTGGTGAAAGGTGACTAGATCATGGGGGTGGATTTCCCCC TCGCTGTTCTCATGACATGAGTGAGTTCTCTCGAGATCTGGTTGCTTAAA AGGGTGTAGCACTTCATCCTTCTTTCTCTCTGTCTTGTCACCATGTGAAG GTGTGCCTGCTTCCCTTTCACCTTCCACCATCATTGTAAGTTTCCTGAGG CCTCACCAGCCATGCCTTCTGTATAGCCTGTGGAACCGGGAGTCAACTAA AACTCTTTTCTTCATAAATTACCCAGTCACAGGTAGTTCTTTATAGCAAT GTTAAGAACAAACTAATACAGAAAAATGGTACCAGAGAAGTGGGGCACTG CTATAAGGATATCTGAAAATGTGGAAGCAACTTTGGAACTAGATAACGGG CAGAGTTTGGAACAGTTTGGAGGGCTCAGAAGAAGATAGGAAGGTGAGGG AAAGTTTGGAACTTCCCAGAGACTTGTGGAATGGTTGTGACCAAAATGCT GATAGTGCTATGAACAGTGAAGTCCAGGCTGAGTAGGTCTCAGATGGAGA TGAGGAACTTACTGGAAACTGGAGTAAATGACATTCTTCTTATGCTTTAG CAAAGAGACTGGCATATTGTGTCCCTGCTCTAGAGATCTGTGGAACTTTG AACTTGAGAGAGATGGTTTAGGGTATCTGGTGGAAGAAATTTCTAAGTAA CAAAGCATTCAAGACGTGGACTGGCTGCTTCTAAAAGCCTATGCTCATCT GCAAAAACAAAGAAATGACCAGAAACTAGAACTTATATTTAAAAGGGAAG CAGAGCATAAAAGTGAAAAATTTGCAGGCTGACCACGTGGTAGAAAAGAA AAACCCATTTTCTGAGGAGGAACTCAAAGCTGCAGAAATTTGCATAAGAA GCCCTGAAGGCTAATAGCCAAGACAATAGGGGAAAATGCCTCCAGGGCAT TTCAGAGACCTTCACAGCAGTCCCTCCCATCACAGGCCAGGAGGTCTAGA AGGGAAAAATTGTTTTGTGGGCTGGGCTCAGGGCCCTGCTGCTCCATGCA GCCTCAGGACATGGCATCCTGCATCCCAGCTGCTCCAGCTCCAGCAGTGG CTAAAAGGGGCCAAGGTACAGCTTCAGAGGGTGCAATCCCCAAGCCTTGG TGGCTTCCACATGGTGTTGGGCCTGCAGGTGTGCTGAAGGCAAGATTTTA GCCTCTGCCTAGATTTCAGAGGATGTATGGAAACACCT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG01109.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0089 a0001c0001t0080 a0001c0001t0089	a0001c0001t0080g0020 a0001c0001t0089g0027 a0001c0001t0080g0020 a0001c0001t0089g0027	2	243	0.0082	-1237	c.364 others(19): Show c.364+15095_365-14700del	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	5/10			chr14	TogoVar
RAB7A_chr3_128721183_128819798	128746721	GGGTTTCA others(1230): Show GGGTTTCACCATGTTAGCCAGGGTGGTCTCGATCTCTTAACCTCGTGATC CACCCGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCCG GCCCGGCCGGGGTTCAACTTTTTAAGATTCAACACATTGGTGATATCACG TGGTAATTGTTTTTCTGAGGTGATAGATATATGTTAGTTAGCTTAACTTA ATCATTCCATATTGTATACATATATCTAAACATCACATGGTACCCATAAA TGTATACAATTATGATTTGGTAATTAAAAATCATATTAACTGAAACATAA TAGGCTGGGTGCGGTGGTTCACATACCTGTAATCCCAGCACTTTGGGAGG CCGAAGGGCAAAGATCACTGAGGCCAGGAGTTTAATCAGCCTGAGCAACA TAGCAATACTCTATCTCTACAAAAAAATAGGCTTGTTGGTGTATATCTGT AGCCCTAGCTACTTGTGAGGATCAGGCAAGAGTATTGCTTGAGCCCAGAA GTTTGAGATTACAGTGAGCTATGATCCTGCCACTGTACTCCAGCCTGGGT GACAGAACAAGACCCTGTCTCTTAAAAAATAATCGGCCGGGCGCAGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATGACCT AAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACTCCATCTC TACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATACC AGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGA GGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAAGAAG AGCAAAACTCCATGAAATAATGAAATGAAATGAAATAAAGAAATGAAATG AAATGAAAAGAAAATGAATCTCAGCCACCCCACATACTTGGTTTATTTCT TGGCCTCAGCTGTCCATTGGTGCCACTTTATTTCTAGCTGTGTGGTGGGT CTTTGGGCCTGCAGGAAGCAAAGGATTCTTTTTCATTTTGTTTTGTTTTG TTTTGTTTTGTTTTTTGAGACGAGTCTCACTCTGTCTCCCAGGCTAGAGT GCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCATGGGCTCAAGC AATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTGCAGGCACGTGCCA CCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp2 HG03225.hp1 others(1): Show HG01255.hp1 HG02280.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0001t0008g0097 others(1): Show a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0098	4	314	0.0127	-1237	c.-9+ others(17): Show c.-9+20377_-9+21613del	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
DGCR2_chr22_19031286_19127412	19094390	ACTCCAGT others(1229): Show ACTCCAGTCTGGGCGACAGAATGAGACTCCGTCTCAACAAACAAAAACAA AAACAAAAAACCATGAAGAGAAACCACTTACTAGAATGGCTAAAATGAAA AAGAATGACCATACCAAGTGGTGGCAAGTGTGTGAAGCAACTGGAACTCT CCCAGTGAAAATGTAAATGGTACAACTTCTTTGGAAAACAATTTGACAGT TTCTTTAAAAACTGAATGTATACCTACCATATAATCTGACCATTCCATTC CTAGGTATTTAACCAAGAGAAATGAAAGCATATGTCCACACAAAGACTTG TTCATAGTACTTTTATTTGTAATATCCAAAAGCTGGAAACAAACAGTGTC TATCAAGAAGCAAATTGGTAAGTTGTGTACAGCCATACAATGGAATACTA CTCAGCAATAAAAAGGAATAAGCTATTAACACATTCCGCAGCATGGATGA ATCTCAAAATAATTATATTGAGTGAAGAAGCCAGTATGTACTCAAAAGAA TACCTACTGTATGACAACATTTATATAAAAATCTAAAAAATGCACTTGCA GCTATCAAGACAGAAAGGGATGGGGGTGGGAGGGATTACAAAGGAGCACG AGAAAATGTTTGGGGTGACGATACGCTGTGTTTGTTATCTTGACTGTGGT GACGGTTTCACAGATTTATACATATATGAAAACTCAAATTTGGCCGTGTG CAGAGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGAATGG ATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAAAAACC CCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTA TAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTTGGG AGGCAGAGGTTGCAGTGAGTCGAAATCACGCCACTGCTCTTCAGCCTAGG CAACAAGAGCAAAATTCTGTCTCAAAAAAACAAAAAACTTGGCCAGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAAA TCATGAAGTCAGGAGATGAAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGA AGCAGAGCTGGCAGTGAGCCCAGATCGCGCCACTGCC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	344	0.0029	-1236	c.80- others(15): Show c.80-6136_80-4901del	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	1/9			chr22	TogoVar
RGS7BP_chr5_64501015_64617319	64550460	TACCCCAT others(1229): Show TACCCCATCTCCAAATACCATCATCACATTGACAGTTACAGCTTTAACAT ATGAATTTGGTGAGGGGATTCAGGCCATAATGTAGAATATTTCTCACTTT GTAAAACAAATGCATTTTTTTAATTTTATTATTATTATACTTTAAGTTTT AGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCT ATGTTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATCT CCTAATGCTATCCCTCCCCCCTCCCCCAACCCTGCAACAGTCCCCAGTGT GTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGC TAAGAATGATGGTTTCCAGTTTCATCCATGTCCTTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCTGCAT TTTCTTAATATATTAAAAATGAAGTGTTCAAAATTATATAAATATTATTT TCTAAAGCTTTTAAACCAGAATACAATCATAGCAGCAATTACCCATATTG AATGCTGGCTCAACTGAGGTTTCATTTCCTTGAAACACAAGTCATTTCTA CCTACTCTCTGTATTGGGTTTTCTGCTTATTTGTCACCCATATTCAAGAA TGTTCCCCCTTCTGCCAACACAGTGTTAAAACAGACAAAGATTACTGTCT ATAGAAGCATCCTGTGTCTTAAGGATTTTTTTTATTTTTTTATTTATTTT TTATTTTATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGCC TGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCCAAT TCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGATTACAGATGT GTGCCATGACGCCTGCTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTC ACCATTTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAAGCCATCAGCCG GCCTTAGCCTCCTAAATTGTGTGTCTTAAGGATTTTTATGGGAGTCACCC TATATTAAGACTATAGAGTGTGCTTCAATTCATCTTTAGACATCAAGTAT TTAGAAAAAATATTTCAAATCAGCACTTGACTATTAAGACCAAAGGGATT ATTCTAAAGAGCTTCTGGCCGTTTTTAGGTCTGGAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	280	0.0036	-1236	c.333 others(19): Show c.333-25311_333-24076del	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDHA_chr5_213320_262082	260846	CCAGAGCA others(1229): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCT CCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGC CTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTAC CGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCC CGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCGC AGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAG CTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCC ACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAG AGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCT CCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01081.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0020 a0002c0003t0004g0104 a0002c0003t0004g0020 a0002c0003t0004g0104	2	266	0.0075	-1236	c.44 others(11): Show c.4427_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3765		chr5	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(1228): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02280.hp1 HG03669.hp1 HG01993.hp2 HG02280.hp1 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0200 a0002c0002t0001g0020 a0002c0002t0002g0188 a0001c0001t0002g0200 a0002c0002t0001g0020 a0002c0002t0002g0188	3	223	0.0135	-1235	c.910 others(17): Show c.910+2971_911-2038del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1637297	TCATGAGG others(1227): Show TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA20129.hp2 NA19003.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0073 a0002c0002t0002g0183 a0002c0002t0001g0073 a0002c0002t0002g0183	2	223	0.0090	-1234	c.910 others(16): Show c.910+766_910+1999del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
TAF2_chr8_119725774_119837841	119772873	GTTGCAGT others(1227): Show GTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGTCTGGTTAACAAGA GACAGACTCCATCTCAAATAATAATAATAATAATAATAACAATAATAATA TTACTTAAAATAAGAAAATGCAGGAAAAGCACTTATGGTACCAAGAATGT ACTAAGCACTCAATAAGTGAACATCAGAATCAACATCATCATTATTGAAA AAGCAAGCTTGGATTTTCTCAAAAAAAAAAAAAACCTATGGTTACCTTTC TTTAAAATTTTCCTTTTTTAAAAAGATAGGAGAAGAAATAATAGCAAAAT TTAGCTACAAAATTAAACAGCACAATTACCTAATAAGTAGATTATTCTTT TCCAAATAGCATTGTGCTAAAGCTATTCTTATAATACACTACCATTTCTA TTTATGTAAAAAAAAATACAAAGAAGTCTTAAGAGCTCAGTTTGCTGATA AGTTCCAAGTTAAAAGTTGATATACTTTCCATAACTTTCTAAATTCTAAA TCAATCCCTCATTTCTTCAAGGCTACAATTATTTTCCCAACCCTTTCTCC CCATTCTTACTCCCCACCATCCTCTCTCAGATTTCTTAGACTTACAGAGG GTTAAATTTATATCTATATCCTCTTTGTACTTACATAATTTATACAATAA TAGAAACTGGATTTATAGTAGGAGTTAAGATACTCACATCTTATGAGGTA AGTAAAAATATGAGGAAGATGGATCCATTTTCAAGAAATATGCCAAAAGT TATAAAAATAACTTCTAAAATAATGATCTTGAAACCTCTCAAATTCAATA AGCTCCCTCTCTATATATAGATTCTATAATTGACCACATATTCCTCCTCT CCTGTTCTTTCACCTCAACAACTTACAGCTCTCTCTAGATTCAACCTTTC CCAGGAAGCCTTTTCTGGCTTCCCCATCCTTAATTTGGGTTAATCCTTCC AAGCACTTCCTTAGCAGGTTAATTAACCTAATGTCATAATAATTGTCTTA TTAAAAATATTGTTCTTGGCCAGGCGCGATGGCTCACGCCTCTAATCCCA GCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTG AGGCAGAAGAATGGCGTGAACCTGGCAGGCGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01928.hp2 HG01952.hp1 others(1): Show HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196	4	322	0.0124	-1234	c.236 others(19): Show c.2364+3912_2364+5145del	TAF2	ENSG00000064313.13	transcript	ENST00000378164.7	protein_coding	18/25			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142316097	AGCGCCTC others(1227): Show AGCGCCTCCCGTAAGAGGGACCCAGCGTGTATTCTTGGATGAAGGAGTAA ATGAATAAGTGACTCAGGCACACCTGAGTCAGAGAATGGAGAACAAAGCT ACAGAGGAAGAGGTCAGACACAGGCGTCGATGCTGGTCATGACGCTGCTG ACATCACTGCCCGAGGGCACAGGCCAGGGCAGCACCTGGTCCCCACAGAG TGGTCCCCGCAGGGCAGCCATGGCTATGAGGAGTGACCCATGCATGGAAA GGCTCCAGGCCGCTCAGCACAAAGCTCCCAGTGTTCCTGTCATCTGCCTT TAGGGAGACTCTGGCCACCCCATCACTGGACAGGGGACTGCTGCCTCTGT TACAGTTTTTTAGTGTAACTAACTTTTGAACTGACTCTACTTTTTTAAGT ACAAGTTTTATTACTGTCTAATTTAGATCTGATAAAATCTACCCGCTTTA AGTGTAGAGTTCAGTAACTCTTAGTTGTACAGCCATCCCCACAACCCAGT TTTAGAACATGCCCATCACCCCAGAAAGGGCCCTGCGCCTTGCCTGCAGG CACCCCAAAACCAAGCCCTGCTCCCAACCCTGACAACTGCTCATCGACTT CTGGTCTCCACAGATTGCATTTTCTGGATGTTTCACACAAACAGAACCAT ACACTGTGCGTTTTCTTGCGTGGGGGCATGCAGTCTTCCAGCCTCACCAC ATTGTGGCCTGCCTAACTCTCCGCTCCTCACTGCTGACCACACCCAACAC GGCACTGGCCACGTCACATGTATTTTCCACAGGGAGGGCGGCATGCATTT CCCCTGTAGGACTGGCTGAGCCACGCTGCTGGCTCTGCAGCAGGCCGAAC TTGCAACCCCAGCCCTCCCAAGGCAGTGAGAGCAACTATGGGCAGCACCT ACGGCAGGGACAGATTGGCGTCTCGCTCACACTGTGCACGTGAAGCAGGT GCGGCCAGCAGCTCACACTGCACACATGAAGCGGGTATGGCCAGCGGCTC ACACTGCACGCGTGAAGTGGGTACGACCAGTGGCTCACACTGTACGCATG AAGCGGGTATGGCCAGCGGCTCACACTGTACGCATGAAGCGGGTATGGCC AGCGGCTCACACTGCACGCGTGAAGCGGGTACGACCAGCGGCTCACACTG TACGCGTGAAGCGGGTATGGCCAGCGGCTCACACTGTACGCGTGAAGCGG GTATGGCCAGCGGCTCACACTGTACGTGTGAAGCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp1 others(8): Show HG00597.hp1 HG00621.hp1 HG00639.hp1 HG01074.hp1 HG01168.hp2 HG01943.hp1 HG02071.hp2 NA18949.hp1 NA18954.hp1 NA18963.hp2 NA20300.hp1	a0007 a0009 a0010 a0007 a0009 a0010	a0007c0007 a0009c0019 a0010c0018 a0007c0007 a0009c0019 a0010c0018	a0007c0007t0001 a0007c0007t0002 a0007c0007t0004 others(2): Show a0007c0007t0001 a0007c0007t0002 a0007c0007t0004 a0009c0019t0002 a0010c0018t0002	a0007c0007t0001g0017 a0007c0007t0002g0003 a0007c0007t0002g0043 others(8): Show a0007c0007t0001g0017 a0007c0007t0002g0003 a0007c0007t0002g0043 a0007c0007t0002g0045 a0007c0007t0002g0046 a0007c0007t0002g0047 a0007c0007t0002g0053 a0007c0007t0002g0230 a0007c0007t0004g0005 a0009c0019t0002g0116 a0010c0018t0002g0026	11	238	0.0462	-1234	c.984 others(17): Show c.984+1213_985-1006del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	7/13			chr8	TogoVar
LRRC9_chr14_59915144_60071817	60039897	ATTTAGTG others(1226): Show ATTTAGTGCTATAAATTTCCTTCTACACACTGCTTTAAATGTGTCCCAGA GATTCTGGTATGTTGTGCCTTTGTTCTCATTGGTTTCAAAGAACATCTTT ATTTCTGCCTCCATTTTGTTATGTACCCAGTAGTCATTCAGGAGCAGGTT GTTCAGTTTCCATGTAGTTGAGCGGTTTTGAGTGAGTTTCTGAATCCTGA GTTCTAGTTTGATTGCACTGTGGTCTGAGAGACAGTTATAATTTCTGTTC TTTTATATTTGCTGAGGAGTGCTTTACTTCCAACTATGTGGTACATTTTG GAATAAATGCGGTGTGGTGCTGAGAAGAATGTACATTTTGTTGATTTGCA GTGGAGAGTTCTGTAGATGTCTATTAGGTCCACTTGGTGCAGAGCTGAGT TCAATTCCTGGATATCCTTGTTAACTTTCTGTCTCGTTGATCTGTCTAAT GTTGACAGTGGGGTGTTAAAGTCTCCCATTATTATTGTGTAGGAGTCTCA GTCTCTTTGTACATCTCTAAGGACTTGCTTTATGAATCTGGGTGCTCCTG TATTGGGTGCATATATATGTAGGATAGTTAGCTCTTCTTGTTGAATTGAT CCCTTTACCATTATATAATGGCCTTCTTTGTCTATTCTGATCTTTGTTGG TTTAAAGTCTTGTTTTATCAGACTAGGATTGCAACCCCTGCATTTTTTTG TTTTCCATTTCCTTGGTAGATCTTCCTCCATCCCTTTATTTTGAGCCTAT GTGTGTCTCTGCCTGTGAGATGGGTCTCCTGAATACAGCACACCAATGGG TCTTAACTCTTTATCCAATTTGCCAGTCTGTGTCTTTTAATTGGAGCATT TAGCCCATTTATATTTAAGGTTAATATTGTTGTGTGTGAATTTGATCCTG TCATTATGATGTTAGCTGGTTATTTTGCTCATCAGTTGATGCTGTTTCTT CCTAGTATTGATGGTCTTTACAATTTGGCATGTTTTTGCAGTGGCTGGTA CCAGTTGTTCCTTTCCATGTTTAGTGCTTCCTTCAGGAGGTCTTGTAAGG CAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGTTTGTCTGAAAGGATT TTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTG GGTTGAAAATTGTTTTCTTTAAGAATGTTGAATATTGGTCCCCACTCTCT TCTGGCTCGTACAGTTTCTGCTGAGAGATCCACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0161 a0001c0002t0021g0161	1	322	0.0031	-1233	c.399 others(19): Show c.3990+7841_3990+9073del	LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	29/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TCERG1L_chr10_131087391_131316721	131190444	CCAAAAAA others(1226): Show CCAAAAAAGGAAAGGATATAACAAAAAAGAAAACTGCAGACCAATTTCCC TGATTAACACAGATGCAAAAATCCTTAAGAAAACACTAGCTAACCAATCC AACAGCACATCAAAAATATAATTCCTCATGATCAAGTGGGTTTTATTTCA GGGAGGCAGGGTTGGTTTAACACACGCAAGTCATTTCAATAGATGCAGAA AAAGTATTCAACAAAATCCAGCACCTCTTTATGATAAAAACTCCCAACAA ACTAGGCATAGAAGGGACCTACTTCAAAATAATAAAAGCCATATGTGACA GACCCACAACCAAAATCATACTGAATAGGGAAAGGCTGAAAGCATTCTCC CTGAGAACAAGAACAAGATAAGGATGCCTAGTTTTGCCACTCTTATTCAA CAAAGTTCCGGAAGTACTAACCAGAGAAATTAAACCCGAGAAAGAAATAA AAGGCATCCAAATTGGAAAAGAGGAAGTTAAACTATCGCTGTTTGCAGAT GATATGATCGTATACCTAGAAAATTCTAAAGACTCCTCCAAAAGACCCTT AGATTTGATAAATGAATTCAGTAAAGTCTCAGGTTGTAAAATCAATGTAC ACAAATCAGTAGCACTGCTAGACACGAACAAAGACCATGCAAGAATAAAA TAAAAACTCAGTATTTTTCACAACAGCTGCAAAACAAAAACAAACAAACA AACAAAAAACCCTAGGAATATACTTCATCCAGGAGGTGAAAAATCTCTAC AAGGAGAACTACAAAACACTGCTGAAAGAAATCATAGATGACTCAAACTA ATGAAAACACATCCCATGCTCATGGATTGGAAGAATCAGTATTATGAAAA TGACCATACTGCCAAAAGCAATCTGCAGATTCAACGCAGTTACCATCAAA ATACCAACATCATGTGTCACAGAATTAGAAAAAACAATTCTAAAATTCAT ATGGAACCAAAAAAGAGCCCAAATACCCAAAGCAATCCTAAGCAAAACAA ACAAATCTGGAGGCATCACATTACTGGACCTCAAATTATACTATAATACA AGACTATAGTCACCAAAACAGCATGGTACTAGTAAAAGTAGGCACATAGA CCAATGGAACAGAATAGACAACTCAGAAATAAAGCCAAATACATACAGCC AACTGATCTTCAACAAAGCATAAATTGCAAAGGTGCTGGGAAGACTGGCA AGCCACATGTAGAAGAATGAAACTGGATCCCATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(30): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp2 HG02055.hp2 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03927.hp2 HG04199.hp2 NA18906.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0002c0004t0002 a0003c0005t0007	a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0082 others(30): Show a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0302 a0001c0001t0002g0319 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0083 a0001c0001t0004g0101 a0001c0001t0005g0204 a0001c0001t0005g0299 a0001c0001t0007g0239 a0001c0001t0007g0285 a0001c0001t0018g0091 a0001c0001t0022g0287 a0001c0002t0001g0181 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0004g0123 a0001c0002t0004g0145 a0002c0004t0002g0217 a0002c0004t0002g0219 a0003c0005t0007g0191	33	324	0.1019	-1233	c.857 others(19): Show c.857-24792_857-23560del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
COL23A1_chr5_178232618_178595393	178394846	AGCATTCG others(1225): Show AGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCT GTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTC TCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAG TCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAAC GTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGC GGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGG TTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTC TGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGG CCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGC TCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAG AGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAA ACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCG GCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTT GGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGC TCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCC GGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCG GCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCG AGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCC AAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCC CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG02895.hp1 others(5): Show HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03453.hp1 NA18522.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0002c0003 a0004c0006 others(2): Show a0001c0001 a0002c0003 a0004c0006 a0005c0008 a0007c0019	a0001c0001t0003 a0001c0001t0006 a0002c0003t0005 others(3): Show a0001c0001t0003 a0001c0001t0006 a0002c0003t0005 a0004c0006t0003 a0005c0008t0002 a0007c0019t0005	a0001c0001t0003g0159 a0001c0001t0006g0230 a0002c0003t0005g0131 others(5): Show a0001c0001t0003g0159 a0001c0001t0006g0230 a0002c0003t0005g0131 a0004c0006t0003g0139 a0004c0006t0003g0172 a0005c0008t0002g0090 a0005c0008t0002g0091 a0007c0019t0005g0160	8	236	0.0339	-1232	c.362 others(19): Show c.362-89159_362-87928del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
MAD1L1_chr7_1810795_2237945	1990944	CGAGCACC others(1225): Show CGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTG AGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGG TGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACC GCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGC TGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGC CACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCA GAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCC CCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCA CCTGCCCCACCAGAGCGCCACTGCTGGCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(55): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01433.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02615.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0009 a0002c0012	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001	a0001c0001t0001g0090 a0002c0002t0001g0003 a0002c0002t0001g0004 others(55): Show a0001c0001t0001g0090 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0086 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0009t0001g0096 a0002c0012t0001g0044	58	264	0.2197	-1232	c.141 others(20): Show c.1416+9889_1417-10404del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
PHYHD1_chr9_128915982_128947038	128938646	CTCCTGAC others(1225): Show CTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGGATGAGCCACCGCGCCCGGCCCTGGAATCTGTATTTTTAACAAG TTTCCTGGAGGACGAATTCAGCATAGAAATTGCTGATCTAGTTCCACACC CTACACCATGCAGCCACCCTTTACAGCCTCCCTAGTAGGTGATTATCTAC TTCTGCTCAAATACCTCTGGTGACAGGGAGCTCATCCCCTCCCAGGAAGC CCTTTCCTTCCTTGCATGAGCCCAAGTCAGCCTCCTTGTGACCACCTTCT TCCACCATTCAGCCTGTACGAAGTTCCCCAAAGGGATGACCATCCCCACC CTTAGCCTGAGTCCAGTTCCCCAAAGGGATGACCATCCCCACTCTCTGCC TGAGTCCAGTTCTCCCAGTTCCTTCCACCATTCCTCTCCCAAATGTTTCA AAGCCCCTTCCATTTCAAATGTTCCTTTGGAGGTCTGTCTTAAAGTTCAG TATTCAGAAAACACGCAGTTGCCCGGGAAGGAAGGAGGTGAGACAGCAAC CTGTTTGTTCTGTTGCTGAGGACCATGTTCCTTTGTTCGGTGGTTCCGCA TCCTAACTGTGCCCCAGCATCGTGTGGGGAGGTTTTTAAAAATGTGGATG CTGGCCAGGAGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCC GAGGGGGTAGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGGCTAACA TGGTGAAACCCCATCTCTACTAAAAATATGAAAATTAGCTGGGCGTGGTG TCAGGCACCTGTAATCCCAGCTACTAGGGAGGCTGAAGCAGGAGAATCAC TTGAATCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCAC TCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAATAA TAATAATAATAAAGAAATGTGGATGCCTGATCATAGCATCTCCCTGCTTC GCACCCAACTTCCCAATTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCAC CCAGACTGGAGTGAGGTGGCACAGTCTCGGCTCACTGCAAGTTCTGCCTC CCGAGTTCAAGCAATTCTTCTGTCTCAGCCTCCCAAGTAGCTGGGATTAC AGGCGCCTGCCACCACACATGGCTAATTTTTGTGTTTTTAGTAGAGACAG GGTTTCACCATGTTGGCCAGGCTGGTCTCAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(92): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02622.hp1 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG03017.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18953.hp2 NA18955.hp1 NA18962.hp2 NA18968.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19078.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0004 a0008c0007 a0001c0002 a0003c0004 a0008c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0003c0004t0001 a0008c0007t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0012 others(76): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0002g0006 a0001c0002t0002g0012 a0001c0002t0002g0033 a0001c0002t0002g0248 a0001c0002t0002g0265 a0001c0002t0002g0279 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0010g0242 a0001c0002t0011g0277 a0001c0002t0014g0235 a0001c0002t0015g0230 a0003c0004t0001g0004 a0003c0004t0001g0269 a0008c0007t0001g0261	95	404	0.2352	-1232	c.457 others(15): Show c.457+896_458-464del	PHYHD1	ENSG00000175287.19	transcript	ENST00000372592.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHYHD1_chr9_128915982_128947038	128938674	CAGCCTCC others(1225): Show CAGCCTCCCAAAGTGCTGGGATTACAGGGATGAGCCACCGCGCCCGGCCC TGGAATCTGTATTTTTAACAAGTTTCCTGGAGGACGAATTCAGCATAGAA ATTGCTGATCTAGTTCCACACCCTACACCATGCAGCCACCCTTTACAGCC TCCCTAGTAGGTGATTATCTACTTCTGCTCAAATACCTCTGGTGACAGGG AGCTCATCCCCTCCCAGGAAGCCCTTTCCTTCCTTGCATGAGCCCAAGTC AGCCTCCTTGTGACCACCTTCTTCCACCATTCAGCCTGTACGAAGTTCCC CAAAGGGATGACCATCCCCACCCTTAGCCTGAGTCCAGTTCCCCAAAGGG ATGACCATCCCCACTCTCTGCCTGAGTCCAGTTCTCCCAGTTCCTTCCAC CATTCCTCTCCCAAATGTTTCAAAGCCCCTTCCATTTCAAATGTTCCTTT GGAGGTCTGTCTTAAAGTTCAGTATTCAGAAAACACGCAGTTGCCCGGGA AGGAAGGAGGTGAGACAGCAACCTGTTTGTTCTGTTGCTGAGGACCATGT TCCTTTGTTCGGTGGTTCCGCATCCTAACTGTGCCCCAGCATCGTGTGGG GAGGTTTTTAAAAATGTGGATGCTGGCCAGGAGTGGTGGCTCACGCTTGT AATCCCAGCACTTTGGGAGGCCGAGGGGGTAGATCACCTAAGGTCAGGAG TTTGAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATA TGAAAATTAGCTGGGCGTGGTGTCAGGCACCTGTAATCCCAGCTACTAGG GAGGCTGAAGCAGGAGAATCACTTGAATCCGGGAGGCGGAGGTTGCAGTG AGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCC GTCTCAAAAAAAAAAAAAATAATAATAATAATAAAGAAATGTGGATGCCT GATCATAGCATCTCCCTGCTTCGCACCCAACTTCCCAATTTTTTTTTTTG AGAGGGAGTCTTGCTCTGTCACCCAGACTGGAGTGAGGTGGCACAGTCTC GGCTCACTGCAAGTTCTGCCTCCCGAGTTCAAGCAATTCTTCTGTCTCAG CCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACACATGGCTAATT TTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCT CAAATTCCTGACCTCAGGTGATCCACCCGCCTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03209.hp2 HG02896.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0286 a0001c0002t0004g0294 a0001c0002t0004g0286 a0001c0002t0004g0294	2	404	0.0050	-1232	c.457 others(15): Show c.457+897_458-463del	PHYHD1	ENSG00000175287.19	transcript	ENST00000372592.8	protein_coding	9/12			chr9	TogoVar
SLC22A1_chr6_160116815_160163718	160125719	GAGGATGT others(1225): Show GAGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTC CTCTTCTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGGGCATTTTC CTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCAT GAGGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCC AACAAGAGGATCTCCTCTGGTGCTAAGATCACGAGGTCCACTCGGGGGGG ATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCT GGTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTCCTGG CTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGG TCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACA AGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATGT GGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCTTCTGGTG CTAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTGGCTTT TGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCA CTTGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAG GATCTCCTCTGCTGCTAAGATCATGAGGTCCACTCGGGGAGGGATGTGGG CATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTA AGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTGGCTTTTGA CTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTC GGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGAT CTCCTCTGGTGCTAAGATCATGAGGTCCACTGGGGAGGGATGTGGGCAGT TTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTGTGGTGCTAAGAT CATGAGGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCT CCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGA GGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCC TCTGGTGCTAAGATCATGAGGTCCACTCAGGGA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18953.hp2 NA18954.hp2 others(3): Show NA18949.hp1 NA18953.hp2 NA18954.hp2 NA18977.hp2 NA18978.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 others(3): Show a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181	6	416	0.0144	-1232	c.411 others(17): Show c.411+3374_412-3153del	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10			chr6	TogoVar
AZI2_chr3_28316047_28353824	28350593	CCCTGCTA others(1224): Show CCCTGCTAGATTATGACAAAATATAATCCGTATAGTCATTGGATTTAGCT GCAAATGGTCACTTTCCACCCTGTATCTGCTTCAATTAACTTTCTCAAAT AAAATAAATTGTTAGAGAAAACTTGTTACACAGTTCATATATAATCATGT ATTAAAGGTTTATTATCAGGGAAAGACCTCTGATAAGTTAATTAAAAGAT ACAGTCTTGATAAGGACATTTTATAGGAAAAGAGAATGGTTAGATAATTG TTAAGCTCTAAGAAAGAAAAGAATTTAGGGGTCCTGAATGATAATCTTAA CTGATAGCCAACTAGTTCAGTGAGTGGTTGGTTTTCCAGAGCATCTTGAT TCCATTGAAATTTATTGGAACTTTGCTTAGGGATTTTTTTCAGGAATTTT CATATTTTCCCAAGAGGGAGTTGTGAATTACATCATCTAAAAAGCTGTGT CCAAGGCCAAGTTTGGGACAGTTTCTTTTCTTTTAAACCATTACATTTTT TGTAGCTACAAATTTAATCTGAAATTTTCAAAACAAGTCACTGCTTTAAA AATATATATATATTTTTTAGAATGGCTGTTTTGGACTGAATTGAACACTC TTGACACCAGGCACTTTAAAAATTGTCCTGTCTACATGTTGTCGCTCATT ATATAAAAAATATATATATATACATATATATATTACAAAAGCTCCTTCTC CACTTTTTTCCACCCCCTACACCAATTCCAAGATCTAGATGTTCTCCCAT CAGGGAAAGGGCTCCTGAAGGACATGATACTGGCCGAGACTGGGTTCCCT TTTTCACTGAATTAGCTTGGACTTCAAAGCAATATCTTAACAAAGAATAT GGGCCCTAGTACAACTTCTGACTGTAGCTTAGCCTTTTTACTTATTTTTA GGTAATAAGGTGCATTTTTAGAGCTTCAAATCTTAGGCAACATGTAAAAA TAATGAAAAACCTTTTTTTTTCTTAAATGAGGACTTTGTCTATATCTGAG CTGTGAAGAATATTTACAGTAAAAAGAAACAGTAAGTGCAATTTTTAAGA AAATTTTTTAAGTGAATTTCTGATTAGTGATTTAAATTGTATATTTAATT TGATTAATGTCATATTACCTCAGGGGTCATATTTTTTGTTTCTTTGTTGT ATATTCTGAGGACTGTGCTTTGGTGCACCCGAGATAGATGTGGCTCTTGA TTGTCAGAGGAAGAAGACTTAATATGTCAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02622.hp2 others(3): Show HG01243.hp1 HG02486.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0074 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0074	6	360	0.0167	-1231	c.-32 others(11): Show c.-3229_-1999del	AZI2	ENSG00000163512.14	transcript	ENST00000479665.6	protein_coding		1770		chr3	TogoVar
CNN2_chr19_1021608_1044065	1033679	TGGGTGGG others(1224): Show TGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGG TGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCG GGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGG ACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTG GTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAG CGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGG TGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCG GGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGT AGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTC TGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGG AGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACAC GGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGAC CGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTG GGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGT GTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTG GGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTC TGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGG AGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACAC ATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGAC CGGGAGCATGGGTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTG GGACACGGTGTCTGGTGTAGACCGGGAGCGTG	T T	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0048 a0001c0003t0003g0048	1	390	0.0026	-1231	c.390 others(16): Show c.390+986_391-1218del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CTDSPL2_chr15_44422629_44534038	44464958	GGCCTCCC others(1224): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCAA GAAAACCCTTTTAATTACTTTTTTAAAGGCCCTATCTTCAAATACGGTCA CGTTCTGAAGTATTCAGGTTAGGGCTTCAACATAAACTTTGGGGTAACAC TATTCAGTGTGAATGAAATCTTTGGTCTCTCAAATACAGATTTTGTGATT CAAAGACTTCAGATTTATGAAATTATCAGCAAGATTATTCAGGAATTGTT CGTGTGCAGCCTTTCTGCTTTTTAGCACAATGAGATTTCTAATATGTAAT TGAAGGCCTCACAACTAAAATATATTTGTTTTCTACCATGAATCTCTGTA TTTTTCCAAATATGGCATTTCCAGAGTTTTCTTCATAACAAAATGACCTT TTCCTCTATTCTTAACTAAATGATGTTACAGTTAAGGATCATAAATTTCC ATATGAATGCAGTTTTAATGAAATACCTGTTTTTAGACCTTTTAACTGTG GTCTACAAAAAGAAACACATGGCTAATACTTTCATGTGAAACAAAAATCA CCCTTAATTTATGTGATGTGCTCTGATTTTTCTGTTTTGTTTCTTCTTCT AAAGGTGATTGTATTAATTTAAATTGATTTGATAATACATTAATGGGTTA AATTTCTTAGTTTGAAAAACATGATTAGATGAACATTTTTGTTCAAAATC TTTAACTCTGATTTGCCAAACTTTGTAGTTTTATTTGGGAATTTTCCTCC TCCTCTTTTTTTTTTTTTTTTTTTTGGATGGAGTCTTGCTCTGTCGCCCA GGCTGGAGTGCAGTGGTACAATCTGGGCTCACTGCAACCTCCATCTGCTG GTTTTAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAACTGGGATTACAGG CATGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGG TTTCACCATATTGGCCAGGCTGGTCTTGAACTCTTTTTTTTTTTTTAAAG ACGGAGTCTCACTCTCACCCAGGCTGGAGTGCAGTGGGACCATGTTGGCT CACTGCAACCTCCATCTCCTTGGTCCAAGCAATTCTCCTGCCTCAGCTTC CTGAGTAGATGGGATTACAGGCACCCACTACCGTGCCTGGCTAATTTTTT TATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCACGCTGGTCTCG AACTCCTGACCTCAGATGATCCACCCGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	234	0.0043	-1231	c.186 others(17): Show c.186+5796_186+7026del	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAD1L1_chr7_1810795_2237945	1990992	TGGCCTCA others(1224): Show TGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGC CACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCA GAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCC CCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCA CCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCC TGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTG GGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCA CCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCA CGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTG AGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGG TGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCATGAGCACCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	264	0.0038	-1231	c.141 others(20): Show c.1416+9842_1417-10452del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79473939	ATTGTAAA others(1224): Show ATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGCGA GGGAAGCGTTTTCACACTCACTGTCGACGTAAACCTGAGGGAAGCGTGTT CTCACGCTCGCTGTCAACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCA CTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGA CGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTAAAC CTGAGGGAAGCGTGTTCTCATGCTCACTGTCGACGTAAACCTGAGGGAAG CGTGTTCTCGCGCTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCA CGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCAC TGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGAC GTAAACCTGAGGGAAGCGTGTTCTCTCACTGTCAACTTTGCAAGGGAAGC GTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCT CACACTCACTGTCGACGTTGCAAGGGAAGCGTGTTCTCACACTCACTGTC GACATTGTGAGGGAAGTGTATTCTCACGCTGTCGACATAAACCTGAGGGA AGCGTGTTCTCACGCTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCT CACACTCACTGTCAACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTC ACTGTCGACGTTGTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTG TAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGCGAGGGA AGCGTTTTCACACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCT CGCTGTCAACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGAC GTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCAACGTAAACC TGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTAAACCTGAGGGAAGC GTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCAC GCTCACTGTCGACGTTGTAAACCTGAGGGAAGTGTGTTCTCACACTCACT CGACGTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTG AGGGAAGCATGTTCTCACACTCACTGTCGACG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0008 a0008	a0008c0052 a0008c0052	a0008c0052t0036 a0008c0052t0036	a0008c0052t0036g0177 a0008c0052t0036g0177	1	322	0.0031	-1231	c.209 others(19): Show c.2092+6385_2092+7615del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79473975	TGTCGACG others(1224): Show TGTCGACGTTGCGAGGGAAGCGTTTTCACACTCACTGTCGACGTAAACCT GAGGGAAGCGTGTTCTCACGCTCGCTGTCAACGTAAACCTGAGGGAAGCG TGTTCTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTC ACGCTCGCTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCG CTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCATGCTCACTGTCGACGT AAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTAAACCTGAGG GAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGT GTTCTCGCGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCA CGCTCACCGTCGACGTAAACCTGAGGGAAGCGTGTTCTCTCACTGTCAAC TTTGCAAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTGA GGGAAGCGTGTTCTCACACTCACTGTCGACGTTGCAAGGGAAGCGTGTTC TCACACTCACTGTCGACATTGTGAGGGAAGTGTATTCTCACGCTGTCGAC ATAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTTGACGTAAACCTGA GGGAAGTGTGTTCTCACACTCACTGTCAACGTTGTAAACCTGAGGGAAGC GTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAGCGTGTTCTCACGCT CACTGTCGACATTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTC GACGTTGCGAGGGAAGCGTTTTCACACTGTCGACGTAAACCTGAGGGAAG CGTGTTCTCACGCTCGCTGTCAACGTAAACCTGAGGGAAGCGTGTTCTCA CGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGC TGTCAACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTA AACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGG AAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGTGTG TTCTCACACTCACTCGACGTGAGGGAAGCGTGTTCTCACGCTCACTGTCG ACATTGTAAACCTGAGGGAAGCATGTTCTCACACTCACTGTCGACGTTGT AAACCTGAGGGAAGCGTGTTCTCACGCTCACC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0206 a0003c0007t0001g0206	1	322	0.0031	-1231	c.209 others(19): Show c.2092+6404_2092+7634del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
OSBPL1A_chr18_24157052_24402824	24323398	CAAAAATT others(1224): Show CAAAAATTAGCAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGA ACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGAAT ACAGGCGTGAGCCACCACACCCAGCCAGGGTGAGGCTTTTTCTTTTTTTT TTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTG TGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCC ACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCC CCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGT GTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGG TGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAA TTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTG CATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATC ATTGTTGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGC CGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACT CATTTGGGTAAAAAAAAAAAAAAAAATTAGCCAGGAGTGGTGGTGAGCAC TTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAACTGCTTGAACCCG GGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTG GGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAGCTTCACCCTGCCT TTTGAATCCCAGAGAACCTGTTCTGGGCCAACAATGCACCACCAGGCTTT CCCAAGTGCACCAAACATAGTTTTGAATAGTTTTCCTTGGGCAAAGCTCC TCTTTCCTTTTGAACTTCAGCCAGAGGGCCCTCACAGGCAGAAGACTAAA TTTCAGATGCTTCTGTCTTGCCCTCTCCCTCCCTCTCAATAAATTTTCTG AAAAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATATCAAATAGA TAAACTACATGCATACACATAAAACAATTCCCTCACCCATAGATAACTCA CGTGTATACATTGGTGCGTATTTCCAGACTCCCAATAAAAACATGAATAT GAATATAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp1 others(103): Show HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18959.hp2 NA18983.hp1 NA18993.hp2 NA19010.hp2 NA19043.hp2 NA19083.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0007 a0003c0010 a0005c0008 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0010 a0002c0005t0001 a0003c0007t0001 a0003c0010t0001 a0005c0008t0008 a0006c0012t0002	a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0056 others(103): Show a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0161 a0001c0001t0002g0196 a0001c0001t0004g0077 a0001c0001t0004g0191 a0001c0001t0005g0001 a0001c0001t0006g0199 a0001c0001t0012g0206 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0034 a0001c0002t0001g0041 a0001c0002t0001g0049 a0001c0002t0001g0060 a0001c0002t0001g0080 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0116 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0138 a0001c0002t0001g0158 a0001c0002t0001g0170 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0084 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0125 a0001c0002t0002g0140 a0001c0002t0002g0154 a0001c0002t0003g0002 a0001c0002t0003g0010 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0104 a0001c0002t0004g0007 a0001c0002t0004g0050 a0001c0002t0004g0135 a0001c0002t0004g0171 a0001c0002t0004g0201 a0001c0002t0011g0204 a0001c0003t0003g0004 a0001c0003t0003g0017 a0001c0003t0003g0031 a0001c0003t0003g0107 a0001c0003t0003g0173 a0001c0003t0003g0180 a0001c0003t0003g0190 a0001c0003t0004g0149 a0001c0004t0001g0015 a0001c0004t0001g0021 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0165 a0001c0004t0002g0189 a0001c0004t0003g0032 a0001c0004t0003g0054 a0001c0004t0003g0068 a0001c0004t0003g0102 a0001c0004t0003g0163 a0001c0004t0003g0166 a0001c0004t0003g0194 a0001c0004t0004g0085 a0001c0004t0004g0167 a0001c0004t0010g0205 a0002c0005t0001g0064 a0003c0007t0001g0030 a0003c0007t0001g0182 a0003c0010t0001g0131 a0005c0008t0008g0055 a0006c0012t0002g0059	106	206	0.5146	-1231	c.626 others(17): Show c.626-5820_626-4590del	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	7/27			chr18	TogoVar
ZCWPW2_chr3_28343721_28531358	28350593	CCCTGCTA others(1224): Show CCCTGCTAGATTATGACAAAATATAATCCGTATAGTCATTGGATTTAGCT GCAAATGGTCACTTTCCACCCTGTATCTGCTTCAATTAACTTTCTCAAAT AAAATAAATTGTTAGAGAAAACTTGTTACACAGTTCATATATAATCATGT ATTAAAGGTTTATTATCAGGGAAAGACCTCTGATAAGTTAATTAAAAGAT ACAGTCTTGATAAGGACATTTTATAGGAAAAGAGAATGGTTAGATAATTG TTAAGCTCTAAGAAAGAAAAGAATTTAGGGGTCCTGAATGATAATCTTAA CTGATAGCCAACTAGTTCAGTGAGTGGTTGGTTTTCCAGAGCATCTTGAT TCCATTGAAATTTATTGGAACTTTGCTTAGGGATTTTTTTCAGGAATTTT CATATTTTCCCAAGAGGGAGTTGTGAATTACATCATCTAAAAAGCTGTGT CCAAGGCCAAGTTTGGGACAGTTTCTTTTCTTTTAAACCATTACATTTTT TGTAGCTACAAATTTAATCTGAAATTTTCAAAACAAGTCACTGCTTTAAA AATATATATATATTTTTTAGAATGGCTGTTTTGGACTGAATTGAACACTC TTGACACCAGGCACTTTAAAAATTGTCCTGTCTACATGTTGTCGCTCATT ATATAAAAAATATATATATATACATATATATATTACAAAAGCTCCTTCTC CACTTTTTTCCACCCCCTACACCAATTCCAAGATCTAGATGTTCTCCCAT CAGGGAAAGGGCTCCTGAAGGACATGATACTGGCCGAGACTGGGTTCCCT TTTTCACTGAATTAGCTTGGACTTCAAAGCAATATCTTAACAAAGAATAT GGGCCCTAGTACAACTTCTGACTGTAGCTTAGCCTTTTTACTTATTTTTA GGTAATAAGGTGCATTTTTAGAGCTTCAAATCTTAGGCAACATGTAAAAA TAATGAAAAACCTTTTTTTTTCTTAAATGAGGACTTTGTCTATATCTGAG CTGTGAAGAATATTTACAGTAAAAAGAAACAGTAAGTGCAATTTTTAAGA AAATTTTTTAAGTGAATTTCTGATTAGTGATTTAAATTGTATATTTAATT TGATTAATGTCATATTACCTCAGGGGTCATATTTTTTGTTTCTTTGTTGT ATATTCTGAGGACTGTGCTTTGGTGCACCCGAGATAGATGTGGCTCTTGA TTGTCAGAGGAAGAAGACTTAATATGTCAATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02622.hp2 others(3): Show HG01243.hp2 HG02486.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0001c0001t0024 a0002c0003t0014 a0001c0001t0009 a0001c0001t0024 a0002c0003t0014	a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 others(3): Show a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0024g0179 a0002c0003t0014g0180	6	254	0.0236	-1231	c.-13 others(19): Show c.-134+1393_-134+2623del	ZCWPW2	ENSG00000206559.8	transcript	ENST00000383768.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 2609 hits)