Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP2B2_chr3_10319023_10510586	10365830	T T	TATGTGCA others(1012): Show TATGTGCACAGTAGGTGGTGTACACGTGTTGTGTGTTTGATGTGTGTGAT ATGCGGTGTATATGTGTTGTGCAGTGTGTGTGATGAGTGGTGTGTATGGT GTATGTTGTATGTGTGTGGTGAGTGTTGTGTTTGTGTGTGATGAGTGGTG TGTGTGGTGTGTGTTGTATGTGCATGACATGTGTGGTCTGTGTGTTGTAT GTGTGGTGAGTGGTATGTGTGATGTGTTTGTGACGTGTATTGTGTGTGGT GAGTGGTGTGTGTATGCTGTGTGTGGAGTGTTGTGTGTGGTGTTTTTTTG TGTGGTAATGTGGTATATGTGTGTTGTGTGTGATGAGTGGTGTATGTGTT TTGTGTATGTAGTGTGTGTTGTTATGTGCATGGTAGGTGCTGTATGTGTG TTATGTGTGTGATAAGTGATGTGTGTCATGAGTGGTGTATGTGTGCTGCC ATGTGTTGTATGTGTGGTGTGTGTGATGTGTTGTCTGTTTTGTGAGTGTT GTGTGTGTGTTGTTATACGTGTGCTGTATGTGGTGTGTGTAGTGAGTGGT ATGCGTGGTGTATGTTGTATGTGCATGGTAGGTGGTGTATGTGTGTGGTG TGTTGTATGTGTTATATGTGTGGTAAGTGTTGTGTGTGTGTTGTATGTGT GTGGTAGGTGGTAGGTGGTATATGTGTGTTGTGTGTTTGTGTGATGTGTG TGTTGTGTGTGTGGTAGGTGGTATGTGTGCTGTGTGTTTGCATGATGGGT GTGGTGAGTGGTGTGTTGTGTTGTGTGTGCATGATGGGTGGTGTATGTGT GGTCTGTGTGATGAGTGGTGTGTTTTGTGTATGTGGTGTGTGTTGTATGT GTGTCGTAGGTGTTGTGTGTGTGTTGTGTGTTGTATGTGTGTGGTAAGTG GTATATGTGTGTTGTGTGTTTGTGTGATGTGTGTGTTGTGTGTTGTGTGT GTGGTAGGTGGTGTATGTGTGTTGTGTGTTTGCGTGATGTGTGTGGTGAG TGGTGTGTATTGTGTGCTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(47): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01496.hp2 HG01981.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02155.hp1 HG02165.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp2 NA18941.hp1 NA18947.hp2 NA18950.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0030 a0001c0037 a0003c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0055 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0050 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0016 a0001c0003t0038 a0001c0004t0001 a0001c0004t0002 a0001c0030t0042 a0001c0037t0001 a0003c0020t0015	a0001c0001t0001g0115 a0001c0001t0002g0224 a0001c0001t0009g0008 others(47): Show a0001c0001t0001g0115 a0001c0001t0002g0224 a0001c0001t0009g0008 a0001c0001t0055g0207 a0001c0002t0002g0028 a0001c0002t0002g0119 a0001c0002t0002g0229 a0001c0002t0004g0147 a0001c0002t0006g0185 a0001c0002t0012g0029 a0001c0002t0012g0105 a0001c0002t0012g0107 a0001c0002t0012g0109 a0001c0002t0013g0083 a0001c0002t0013g0110 a0001c0002t0013g0225 a0001c0002t0020g0221 a0001c0002t0050g0132 a0001c0003t0001g0006 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0001g0073 a0001c0003t0001g0085 a0001c0003t0001g0121 a0001c0003t0001g0157 a0001c0003t0001g0230 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0261 a0001c0003t0001g0263 a0001c0003t0001g0265 a0001c0003t0002g0196 a0001c0003t0002g0223 a0001c0003t0003g0074 a0001c0003t0003g0078 a0001c0003t0003g0250 a0001c0003t0007g0192 a0001c0003t0007g0193 a0001c0003t0016g0129 a0001c0003t0038g0114 a0001c0004t0001g0245 a0001c0004t0002g0032 a0001c0004t0002g0118 a0001c0030t0042g0167 a0001c0037t0001g0045 a0003c0020t0015g0267	50	290	0.1724	1019	c.166 others(1038): Show c.1660-5708_1660-5707insCCAGCACACAATACACACCACTCACC ACACACATCACGCAAACACACAACACACATACACCACCTACCACACACAC AACACACAACACACACATCACACAAACACACAACACACATATACCACTTA CCACACACATACAACACACAACACACACACAACACCTACGACACACATAC AACACACACCACATACACAAAACACACCACTCATCACACAGACCACACAT ACACCACCCATCATGCACACACAACACAACACACCACTCACCACACCCAT CATGCAAACACACAGCACACATACCACCTACCACACACACAACACACACA TCACACAAACACACAACACACATATACCACCTACCACCTACCACACACAT ACAACACACACACAACACTTACCACACATATAACACATACAACACACCAC ACACATACACCACCTACCATGCACATACAACATACACCACGCATACCACT CACTACACACACCACATACAGCACACGTATAACAACACACACACAACACT CACAAAACAGACAACACATCACACACACCACACATACAACACATGGCAGC ACACATACACCACTCATGACACACATCACTTATCACACACATAACACACA TACAGCACCTACCATGCACATAACAACACACACTACATACACAAAACACA TACACCACTCATCACACACAACACACATATACCACATTACCACACAAAAA AACACCACACACAACACTCCACACACAGCATACACACACCACTCACCACA CACAATACACGTCACAAACACATCACACATACCACTCACCACACATACAA CACACAGACCACACATGTCATGCACATACAACACACACCACACACACCAC TCATCACACACAAACACAACACTCACCACACACATACAACATACACCATA CACACCACTCATCACACACACTGCACAACACATATACACCGCATATCACA CACATCAAACACACAACACGTGTACACCACCTACTGTGCACAT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	12/22			chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10365830	T T	TATGTGCA others(1012): Show TATGTGCACAGTAGGTGGTGTACACGTGTTGTGTGTTTGATGTGTGTGAT ATGCGGTGTATATGTGTTGTGCAGTGTGTGTGATGAGTGGTGTGTATGGT GTATGTTGTATGTGTGTGGTGAGTGTTGTGTTTGTGTGTGATGAGTGGTG TGTGTGGTGTGTGTTGTATGTGCATGACATGTGTGGTCTGTGTGTTGTAT GTGTGGTGAGTGGTATGTGTGATGTGTTTGTGACGTGTATTGTGTGTGGT GAGTGGTGTGTGTATGCTGTGTGTGGAGTGTTGTGTGTGGTGTTTTTTTG TGTGGTAATGTGGTATATGTGTGTTGTGTGTGATGAGTGGTGTATGTGTT TTGTGTATGTAGTGTGTGTTGTTATGTGCATGGTAGGTGCTGTATGTGTG TTATGTGTGTGATAAGTGATGTGTGTCATGAGTGGTGTATGTGTGCTGCC ATGTGTTGTATGTGTGGTGTGTGTGATGTGTTGTCTGTTTTGTGAGTGTT GTGTGTGTGTTGTTATATGTGTGCTGTATGTGGTGTGTGTAGTGAGTGGT ATGCGTGGTGTATGTTGTATGTGCATGGTAGGTGGTGTATGTGTGTGGTG TGTTGTATGTGTTATATGTGTGGTAAGTGTTGTGTGTGTGTTGTATGTGT GTGGTAGGTGGTAGGTGGTATATGTGTGTTGTGTGTTTGTGTGATGTGTG TGTTGTGTGTGTGGTAGGTGGTATGTGTGCTGTGTGTTTGCATGATGGGT GTGGTGAGTGGTGTGTTGTGTTGTGTGTGCATGATGGGTGGTGTATGTGT GGTCTGTGTGATGAGTGGTGTGTTTTGTGTATGTGGTGTGTGTTGTATGT GTGTCGTAGGTGTTGTGTGTGTGTTGTGTGTTGTATGTGTGTGGTAAGTG GTATATGTGTGTTGTGTGTTTGTGTGATGTGTGTGTTGTGTGTTGTGTGT GTGGTAGGTGGTGTATGTGTGTTGTGTGTTTGCGTGATGTGTGTGGTGAG TGGTGTGTATTGTGTGCTGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02451.hp1 others(8): Show HG01109.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02717.hp2 HG03130.hp2 HG03209.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0011 others(3): Show a0001c0002 a0001c0004 a0001c0011 a0001c0019 a0001c0021 a0001c0034	a0001c0002t0001 a0001c0004t0021 a0001c0011t0007 others(3): Show a0001c0002t0001 a0001c0004t0021 a0001c0011t0007 a0001c0019t0018 a0001c0021t0007 a0001c0034t0006	a0001c0002t0001g0183 a0001c0004t0021g0177 a0001c0004t0021g0218 others(7): Show a0001c0002t0001g0183 a0001c0004t0021g0177 a0001c0004t0021g0218 a0001c0011t0007g0001 a0001c0011t0007g0020 a0001c0011t0007g0031 a0001c0011t0007g0200 a0001c0019t0018g0188 a0001c0021t0007g0213 a0001c0034t0006g0134	11	290	0.0379	1019	c.166 others(1038): Show c.1660-5708_1660-5707insCCAGCACACAATACACACCACTCACC ACACACATCACGCAAACACACAACACACATACACCACCTACCACACACAC AACACACAACACACACATCACACAAACACACAACACACATATACCACTTA CCACACACATACAACACACAACACACACACAACACCTACGACACACATAC AACACACACCACATACACAAAACACACCACTCATCACACAGACCACACAT ACACCACCCATCATGCACACACAACACAACACACCACTCACCACACCCAT CATGCAAACACACAGCACACATACCACCTACCACACACACAACACACACA TCACACAAACACACAACACACATATACCACCTACCACCTACCACACACAT ACAACACACACACAACACTTACCACACATATAACACATACAACACACCAC ACACATACACCACCTACCATGCACATACAACATACACCACGCATACCACT CACTACACACACCACATACAGCACACATATAACAACACACACACAACACT CACAAAACAGACAACACATCACACACACCACACATACAACACATGGCAGC ACACATACACCACTCATGACACACATCACTTATCACACACATAACACACA TACAGCACCTACCATGCACATAACAACACACACTACATACACAAAACACA TACACCACTCATCACACACAACACACATATACCACATTACCACACAAAAA AACACCACACACAACACTCCACACACAGCATACACACACCACTCACCACA CACAATACACGTCACAAACACATCACACATACCACTCACCACACATACAA CACACAGACCACACATGTCATGCACATACAACACACACCACACACACCAC TCATCACACACAAACACAACACTCACCACACACATACAACATACACCATA CACACCACTCATCACACACACTGCACAACACATATACACCGCATATCACA CACATCAAACACACAACACGTGTACACCACCTACTGTGCACAT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	12/22			chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10365830	T T	TATGTGCA others(1012): Show TATGTGCACAGTAGGTGGTGTACACGTGTTGTGTGTTTGATGTGTGTGAT ATGCGGTGTATATGTGTTGTGCAGTGTGTGTGATGAGTGGTGTGTATGGT GTATGTTGTATGTGTGTGGTGAGTGTTGTGTTTGTGTGTGATGAGTGGTG TGTGTGGTGTGTGTTGTATGTGCATGACATGTGTGGTCTGTGTGTTGTAT GTGTGGTGAGTGGTATGTGTGGTGTGTTTGTGACGTGTATTGTGTGTGGT GAGTGGTGTGTGTATGCTGTGTGTGGAGTGTTGTGTGTGGTGTTTTTTTG TGTGGTAATGTGGTATACGTGTGTTGTGTGTGATGAGTGGTGTATGTATT TTGTGTATGTAGTGTGTGTTGTTATGTGCATGGTAGGTGCTGTATGTGTG TTATGTGTGTGATAAGTGATGTGTGTCATGAGTGGTGTATGTGTGCTGCC ATGTGTTGTATGTGTGGTGTGTGTGATGTGTTGTCTGTTTTGTGAGTGTT GTGTGTGTGTTGTTATACGTGTGCTGTATGTGGTGTGTGTAGTGAGTGGT ATGCGTGGTGTATGTTGTATGTGCATGGTAGGTGGTGTATGTGTGTGGTG TGTTGTATGTGTTATATGTGTGGTAAGTGTTGTGTGTGTGTTGTATGTGT GTGGTAGGTGGTAGGTGGTATATGTGTGTTGTGTGTTTGTGTGATGTGTG TGTTGTGTGTGTGGTAGGTGGTATGTGTGCTGTGTGTTTGCATGATGGGT GTGGTGAGTGGTGTGTTGTGTTGTGTGTGCATGATGGGTGGTGTATGTGT GGTCTGTGTGATGAGTGGTGTGTTTTGTGTATGTGGTGTGTGTTGTATGT GTGTCGTAGGTGTTGTGTGTGTGTTGTGTGTTGTATGTGTGTGGTAAGTG GTATATGTGTGTTGTGTGTTTGTGTGATGTGTGTGTTGTGTGTTGTGTGT GTGGTAGGTGGTGTATGTGTGTTGTGTGTTTGCGTGATGTGTGTGGTGAG TGGTGTGTATTGTGTGCTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0276 a0001c0007t0003g0276	1	290	0.0035	1019	c.166 others(1038): Show c.1660-5708_1660-5707insCCAGCACACAATACACACCACTCACC ACACACATCACGCAAACACACAACACACATACACCACCTACCACACACAC AACACACAACACACACATCACACAAACACACAACACACATATACCACTTA CCACACACATACAACACACAACACACACACAACACCTACGACACACATAC AACACACACCACATACACAAAACACACCACTCATCACACAGACCACACAT ACACCACCCATCATGCACACACAACACAACACACCACTCACCACACCCAT CATGCAAACACACAGCACACATACCACCTACCACACACACAACACACACA TCACACAAACACACAACACACATATACCACCTACCACCTACCACACACAT ACAACACACACACAACACTTACCACACATATAACACATACAACACACCAC ACACATACACCACCTACCATGCACATACAACATACACCACGCATACCACT CACTACACACACCACATACAGCACACGTATAACAACACACACACAACACT CACAAAACAGACAACACATCACACACACCACACATACAACACATGGCAGC ACACATACACCACTCATGACACACATCACTTATCACACACATAACACACA TACAGCACCTACCATGCACATAACAACACACACTACATACACAAAATACA TACACCACTCATCACACACAACACACGTATACCACATTACCACACAAAAA AACACCACACACAACACTCCACACACAGCATACACACACCACTCACCACA CACAATACACGTCACAAACACACCACACATACCACTCACCACACATACAA CACACAGACCACACATGTCATGCACATACAACACACACCACACACACCAC TCATCACACACAAACACAACACTCACCACACACATACAACATACACCATA CACACCACTCATCACACACACTGCACAACACATATACACCGCATATCACA CACATCAAACACACAACACGTGTACACCACCTACTGTGCACAT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	12/22			chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10365830	T T	TATGTGCA others(1012): Show TATGTGCACAGTAGGTGGTGTACACGTGTTGTGTGTTTGATGTGTGTGAT ATGCGGTGTATATGTGTTGTGCAGTGTGTGTGATGAGTGGTGTGTATGGT GTATGTTGTATGTGTGTGGTGAGTGTTGTGTTTGTGTGTGATGAGTGGTG TGTGTGGTGTGTGTTGTATGTGCATGACATGTGTGGTCTGTGTGTTGTAT GTGTGGTGAGTGGTATGTGTGGTGTGTTTGTGACGTGTATTGTGTGTGGT GAGTGGTGTGTGTATGCTGTGTGTGGAGTGTTGTGTGTGGTGTTTTTTTG TGTGGTAATGTGGTATATGTGTGTTGTGTGTGATGAGTGGTGTATGTATT TTGTGTATGTAGTGTGTGTTGTTATGTGCATGGTAGGTGCTGTATGTGTG TTATGTGTGTGATAAGTGATGTGTGTCATGAGTGGTGTATGTGTGCTGCC ATGTGTTGTATGTGTGGTGTGTGTGATGTGTTGTCTGTTTTGTGAGTGTT GTGTGTGTGTTGTTATACGTGTGCTGTATGTGGTGTGTGTAGTGAGTGGT ATGCGTGGTGTATGTTGTATGTGCATGGTAGGTGGTGTATGTGTGTGGTG TGTTGTATGTGTTATATGTGTGGTAAGTGTTGTGTGTGTGTTGTATGTGT GTGGTAGGTGGTAGGTGGTATATGTGTGTTGTGTGTTTGTGTGATGTGTG TGTTGTGTGTGTGGTAGGTGGTATGTGTGCTGTGTGTTTGCATGATGGGT GTGGTGAGTGGTGTGTTGTGTTGTGTGTGCATGATGGGTGATGTATGTGT GGTCTGTGTGATGAGTGGTGTGTTTTGTGTATGTGGTGTGTGTTGTATGT GTGTCGTAGGTGTTGTGTGTGTGTTGTGTGTTGTATGTGTGTGGTAAGTG GTATATGTGTGTTGTGTGTTTGTGTGATGTGTGTGTTGTGTGTTGTGTGT GTGGTAGGTGGTGTATGTGTGTTGTGTGTTTGCGTGATGTGTGTGGTGAG TGGTGTGTATTGTGTGCTGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0175 a0001c0001t0049g0175	1	290	0.0035	1019	c.166 others(1038): Show c.1660-5708_1660-5707insCCAGCACACAATACACACCACTCACC ACACACATCACGCAAACACACAACACACATACACCACCTACCACACACAC AACACACAACACACACATCACACAAACACACAACACACATATACCACTTA CCACACACATACAACACACAACACACACACAACACCTACGACACACATAC AACACACACCACATACACAAAACACACCACTCATCACACAGACCACACAT ACATCACCCATCATGCACACACAACACAACACACCACTCACCACACCCAT CATGCAAACACACAGCACACATACCACCTACCACACACACAACACACACA TCACACAAACACACAACACACATATACCACCTACCACCTACCACACACAT ACAACACACACACAACACTTACCACACATATAACACATACAACACACCAC ACACATACACCACCTACCATGCACATACAACATACACCACGCATACCACT CACTACACACACCACATACAGCACACGTATAACAACACACACACAACACT CACAAAACAGACAACACATCACACACACCACACATACAACACATGGCAGC ACACATACACCACTCATGACACACATCACTTATCACACACATAACACACA TACAGCACCTACCATGCACATAACAACACACACTACATACACAAAATACA TACACCACTCATCACACACAACACACATATACCACATTACCACACAAAAA AACACCACACACAACACTCCACACACAGCATACACACACCACTCACCACA CACAATACACGTCACAAACACACCACACATACCACTCACCACACATACAA CACACAGACCACACATGTCATGCACATACAACACACACCACACACACCAC TCATCACACACAAACACAACACTCACCACACACATACAACATACACCATA CACACCACTCATCACACACACTGCACAACACATATACACCGCATATCACA CACATCAAACACACAACACGTGTACACCACCTACTGTGCACAT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	12/22			chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10365830	T T	TATGTGCA others(1012): Show TATGTGCACAGTAGGTGGTGTACACGTGTTGTGTGTTTGATGTGTGTGAT ATGCGGTGTATATGTGTTGTGCAGTGTGTGTGATGAGTGGTGTGTATGGT GTATGTTGTATGTGTGTGGTGAGTGTTGTGTTTGTGTGTGATGAGTGGTG TGTGTGGTGTGTGTTGTATGTGCATGACATGTGTGGTCTGTGTGTTGTAT GTGTGGTGAGTGGTATGTGTGGTGTGTTTGTGACGTGTATTGTGTGTGGT GAGTGGTGTGTGTATGCTGTGTGTGGAGTGTTGTGTGTGGTGTTTTTTTG TGTGGTAATGTGGTATATGTGTGTTGTGTGTGATGAGTGGTGTATGTATT TTGTGTATGTAGTGTGTGTTGTTATGTGCATGGTAGGTGCTGTATGTGTG TTATGTGTGTGATAAGTGATGTGTGTCATGAGTGGTGTATGTGTGCTGCC ATGTGTTGTATGTGTGGTGTGTGTGATGTGTTGTCTGTTTTGTGAGTGTT GTGTGTGTGTTGTTATACGTGTGCTGTATGTGGTGTGTGTAGTGAGTGGT ATGCGTGGTGTATGTTGTATGTGCATGGTAGGTGGTGTATGTGTGTGGTG TGTTGTATGTGTTATATGTGTGGTAAGTGTTGTGTGTGTGTTGTATGTGT GTGGTAGGTGGTAGGTGGTATATGTGTGTTGTGTGTTTGTGTGATGTGTG TGTTGTGTGTGTGGTAGGTGGTATGTGTGCTGTGTGTTTGCATGATGGGT GTGGTGAGTGGTGTGTTGTGTTGTGTGTGCATGATGGGTGGTGTATGTGT GGTCTGTGTGATGAGTGGTGTGTTTTGTGTATGTGGTGTGTGTTGTATGT GTGTCGTAGGTGTTGTGTGTGTGTTGTGTGTTGTATGTGTGTGGTAAGTG GTATATGTGTGTTGTGTGTTTGTGTGATGTGTGTGTTGTGTGTTGTGTGT GTGGTAGGTGGTGTATGTGTGTTGTGTGTTTGCGTGATGTGTGTGGTGAG TGGTGTGTATTGTGTGCTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(120): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18992.hp1 NA18992.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0001c0016 a0001c0023 a0001c0024 a0001c0025 a0001c0029 a0001c0032 a0001c0033 a0001c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0047 a0001c0001t0048 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0031 a0001c0005t0001 a0001c0005t0002 a0001c0005t0014 a0001c0005t0016 a0001c0005t0026 a0001c0005t0032 a0001c0005t0033 a0001c0005t0044 a0001c0005t0046 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0008 a0001c0006t0011 a0001c0007t0001 a0001c0007t0002 a0001c0007t0003 a0001c0012t0001 a0001c0012t0018 a0001c0012t0022 a0001c0013t0002 a0001c0013t0004 a0001c0016t0007 a0001c0016t0018 a0001c0023t0009 a0001c0024t0001 a0001c0025t0001 a0001c0029t0002 a0001c0032t0013 a0001c0033t0003 a0001c0036t0005	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0063 others(120): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0027 a0001c0001t0003g0012 a0001c0001t0003g0044 a0001c0001t0004g0228 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0014g0062 a0001c0001t0014g0251 a0001c0001t0014g0259 a0001c0001t0015g0108 a0001c0001t0017g0035 a0001c0001t0017g0278 a0001c0001t0017g0279 a0001c0001t0020g0056 a0001c0001t0025g0154 a0001c0001t0028g0160 a0001c0001t0035g0116 a0001c0001t0036g0009 a0001c0001t0039g0069 a0001c0001t0047g0277 a0001c0001t0048g0024 a0001c0002t0002g0082 a0001c0002t0003g0162 a0001c0003t0001g0128 a0001c0004t0001g0050 a0001c0004t0001g0152 a0001c0004t0001g0176 a0001c0004t0001g0233 a0001c0004t0001g0239 a0001c0004t0001g0258 a0001c0004t0002g0058 a0001c0004t0002g0097 a0001c0004t0002g0100 a0001c0004t0002g0126 a0001c0004t0002g0127 a0001c0004t0002g0170 a0001c0004t0002g0264 a0001c0004t0031g0232 a0001c0005t0001g0013 a0001c0005t0001g0055 a0001c0005t0001g0064 a0001c0005t0001g0139 a0001c0005t0001g0174 a0001c0005t0001g0220 a0001c0005t0001g0247 a0001c0005t0001g0255 a0001c0005t0001g0272 a0001c0005t0002g0036 a0001c0005t0002g0042 a0001c0005t0002g0060 a0001c0005t0002g0095 a0001c0005t0002g0122 a0001c0005t0002g0131 a0001c0005t0002g0143 a0001c0005t0002g0234 a0001c0005t0002g0270 a0001c0005t0002g0284 a0001c0005t0014g0283 a0001c0005t0016g0197 a0001c0005t0016g0253 a0001c0005t0026g0271 a0001c0005t0032g0106 a0001c0005t0033g0248 a0001c0005t0044g0081 a0001c0005t0046g0011 a0001c0006t0001g0088 a0001c0006t0001g0171 a0001c0006t0001g0231 a0001c0006t0002g0169 a0001c0006t0002g0205 a0001c0006t0003g0004 a0001c0006t0003g0017 a0001c0006t0003g0033 a0001c0006t0003g0038 a0001c0006t0003g0046 a0001c0006t0003g0071 a0001c0006t0003g0092 a0001c0006t0003g0094 a0001c0006t0003g0164 a0001c0006t0003g0165 a0001c0006t0003g0201 a0001c0006t0003g0288 a0001c0006t0008g0068 a0001c0006t0011g0269 a0001c0007t0001g0019 a0001c0007t0001g0059 a0001c0007t0001g0125 a0001c0007t0001g0151 a0001c0007t0001g0172 a0001c0007t0001g0226 a0001c0007t0001g0285 a0001c0007t0002g0117 a0001c0007t0003g0016 a0001c0012t0001g0195 a0001c0012t0018g0208 a0001c0012t0022g0199 a0001c0013t0002g0222 a0001c0013t0004g0080 a0001c0013t0004g0084 a0001c0016t0007g0249 a0001c0016t0018g0217 a0001c0023t0009g0280 a0001c0024t0001g0287 a0001c0025t0001g0101 a0001c0029t0002g0104 a0001c0032t0013g0150 a0001c0033t0003g0273 a0001c0036t0005g0252	123	290	0.4241	1019	c.166 others(1038): Show c.1660-5708_1660-5707insCCAGCACACAATACACACCACTCACC ACACACATCACGCAAACACACAACACACATACACCACCTACCACACACAC AACACACAACACACACATCACACAAACACACAACACACATATACCACTTA CCACACACATACAACACACAACACACACACAACACCTACGACACACATAC AACACACACCACATACACAAAACACACCACTCATCACACAGACCACACAT ACACCACCCATCATGCACACACAACACAACACACCACTCACCACACCCAT CATGCAAACACACAGCACACATACCACCTACCACACACACAACACACACA TCACACAAACACACAACACACATATACCACCTACCACCTACCACACACAT ACAACACACACACAACACTTACCACACATATAACACATACAACACACCAC ACACATACACCACCTACCATGCACATACAACATACACCACGCATACCACT CACTACACACACCACATACAGCACACGTATAACAACACACACACAACACT CACAAAACAGACAACACATCACACACACCACACATACAACACATGGCAGC ACACATACACCACTCATGACACACATCACTTATCACACACATAACACACA TACAGCACCTACCATGCACATAACAACACACACTACATACACAAAATACA TACACCACTCATCACACACAACACACATATACCACATTACCACACAAAAA AACACCACACACAACACTCCACACACAGCATACACACACCACTCACCACA CACAATACACGTCACAAACACACCACACATACCACTCACCACACATACAA CACACAGACCACACATGTCATGCACATACAACACACACCACACACACCAC TCATCACACACAAACACAACACTCACCACACACATACAACATACACCATA CACACCACTCATCACACACACTGCACAACACATATACACCGCATATCACA CACATCAAACACACAACACGTGTACACCACCTACTGTGCACAT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	12/22			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517781	T T	TCAGTCAC others(1012): Show TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCCCC CGATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGAAC CCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCC GACCCCCCCCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGC TGACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTC AGGCTGACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCC CCTCAGGCTGACCCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCAT CTCCCCCTCAGGCTGACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCT CCATCTTCCCCTCAGGCTGACCCCCCCAATCAGTCACTTCCTGCTCTATG GTCTCCATCTCCCCCTCAGGCTGACCCCCCCCAATCAGTCACTTCCTGCT CTATGGTCTCCATCTCCCCTCAGGCCGACCCCACCCCCATCAGTCACTTC CTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCAATCAGTCA CTTCCTGCTCTATGGTCTCCATCTTCCCCTCAGGCTGACCCCCCCAATCA GTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCC AATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCTCAGGCCGACCCC ACCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCG ACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGC CGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAG GCCAACCCCCCCGATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCC TCAGGCTGAACCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTC CCCCTCAGGCCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 HG02109.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0070 a0001c0001t0068 a0001c0001t0070	a0001c0001t0068g0232 a0001c0001t0070g0231 a0001c0001t0068g0232 a0001c0001t0070g0231	2	319	0.0063	1019	c.410 others(1036): Show c.410-3366_410-3365insGGGGGGGTCGGCCTGAGGGGGAGATGGA GACCATAGAGCAGGAAGTGACTGATTGGGGGGTTCAGCCTGAGGGGGAGA TGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTTGGCCTGAGGGG GGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAG GGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGA AGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGTGGGGTCGG CCTGAGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGG TCAGCCTGAGGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATTGGG GGGGTCAGCCTGAGGGGAAGATGGAGACCATAGAGCAGGAAGTGACTGAT TGGGGGGGTCAGCCTGAGGGGGAGATGGAGACCATAGAGCAGGAAGTGAC TGATGGGGGTGGGGTCGGCCTGAGGGGAGATGGAGACCATAGAGCAGGAA GTGACTGATTGGGGGGGGTCAGCCTGAGGGGGAGATGGAGACCATAGAGC AGGAAGTGACTGATTGGGGGGGTCAGCCTGAGGGGAAGATGGAGACCATA GAGCAGGAAGTGACTGATTGGGGGGGTCAGCCTGAGGGGGAGATGGAGAC CATAGAGCAGGAAGTGACTGATTGGGGGGGGTCAGCCTGAGGGGGAGATG GAGACCATAGAGCAGGAAGTGACTGATGGGGGGGGTCAGCCTGAGGGGGA GATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTCAGCCTGAGG GGGAGATGGAGACCATAGAGCAGGAAGTGACTGGGGGGGGTCGGCCTGAG GGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGTTCAGCC TGAGGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTT GGCCTGAGGGGGGATGGAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1185961	T T	TGCGTAGG others(1012): Show TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	338	0.0030	1019	c.300 others(1036): Show c.300-8882_300-8881insGGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(1012): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGAAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAA GCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGAAAAG CCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAG GAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGG AGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0102 a0002c0004t0001g0102	1	288	0.0035	1019	c.303 others(1038): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTC TCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTTC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTTCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDHR2_chr5_176544342_176600824	176591775	G G	GTTGTGAT others(1012): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01169.hp2 others(1): Show HG00735.hp2 HG01168.hp2 HG01169.hp2 NA18975.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0015 a0002c0001t0001g0125 a0002c0001t0001g0148 a0002c0001t0001g0015 a0002c0001t0001g0125 a0002c0001t0001g0148	4	344	0.0116	1019	c.373 others(1036): Show c.3734+292_3734+293insTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP97D2_chr13_114174257_114228085	114199743	G G	GTGCTTAC others(1012): Show GTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGT CCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAG GCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTG CGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTG AGGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACG GCGCGTCCCCTTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCTTGCGTACGGTC CCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGGTGACGGCGC GTCCCCTTGCGTACGGTCCCCGCTGAGGGGGTGACGGCGCGTCCCCGTGC TTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCC GCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCTTGCGTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	400	0.0025	1019	c.172 others(1034): Show c.172-579_172-578insTTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGCGTACGGTCCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG CTTACGGTCCCCGCTGAGGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCTTGCGTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCTTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT GAGGGGGTGACGGCGCGTCCCCTTGCGTACGGTCCCCGCTGAGGGGGTGA CGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGG TCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAG GGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCTTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGC GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCTTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL18A1_chr21_45400165_45518720	45500995	G G	GGTGTGTT others(1012): Show GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGT GTGGGGGTGTGGTTTGGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 NA19240.hp1 HG02486.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0016 a0001c0004t0001 a0001c0004t0016	a0001c0004t0001g0018 a0001c0004t0001g0064 a0001c0004t0016g0051 a0001c0004t0001g0018 a0001c0004t0001g0064 a0001c0004t0016g0051	3	292	0.0103	1019	c.268 others(1038): Show c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501001	T T	TTGGGTGT others(1012): Show TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGG TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGGTGTAGT GGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTTGCGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTTGTGTGGG GGTGTGGTTTGTGTGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTT TGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTGGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGGTGTTGGGTGTGTAGTGTGGGGG TGGGGTTGGTGTGTTGGGGTGTGTAGTGTGGGGGGTGTGGTGTGGTGTGT GTTGGGTGTGTGTGTGGGGGGTGGGTTGGGGGTGTTGTGTAGTGGGGGGG GGTGGTGTGGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0026 a0001c0004t0001g0026	1	292	0.0034	1019	c.268 others(1038): Show c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTGTGTGGGGGTGTAGTGGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGCGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTGTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTTGTGTGGGGGTGTGGTTTGTGTGTGTGTGTTGGGG TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG GGTGTGGTTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG GTGTTGGGTGTGTAGTGTGGGGGTGGGGTTGGTGTGTTGGGGTGTGTAGT GTGGGGGGTGTGGTGTGGTGTGTGTTGGGTGTGTGTGTGGGGGGTGGGTT GGGGGTGTTGTGTAGTGGGGGGGGGTGGTGTGGTGTGTGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
CRTC3_chr15_90524923_90650345	90647263	C C	CCCTCCTC others(1012): Show CCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCACAATCCTCCTC CACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCACAATCC TCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCAC AATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCCTCACCCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCACAATCCTCCT CCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAC CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCC TCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCTC AATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCC ACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCT CAATCCTCCTCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	276	0.0036	1019	c.51 others(1030): Show c.5123_*5124insCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCC TCCACAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCC ACACCCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCACAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCAC ACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCC TCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCAC AATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACC CCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCT CCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTC CTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CACACCCCTCCTCCTCAATCCTCCTCCACACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1919		chr15	TogoVar
DIP2C_chr10_269201_694668	478090	A A	AAGAGAGG others(1012): Show AAGAGAGGGGAAGGGAGGGGAAAAGAAGAGAGGGGAAGGGAAGGGAGGGG AAAAGAAGAGAGGGGAAGGGAGGGGAGGGGAAAAGAAGAGAGGGGAAGGG AGGGGAGGGGAGGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAGAGGAGGG GAGGGGAAGGGAAAAGAAGAGGGGAAGGGAGAGGAGGGGAGGGGAAAAGA AGAGAGGAAGGGAGGGGAGGGGAGGGGAGGGGGAGGAGAGAGAAGGGAGG GGAAGGGAGAGGGAAGAGAGAAGAAGGAAGAGAGAAGAAGGGAGAGAGAA GAAAGGAGGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGGAGGGAAAGGGA GGGGAAGGGAGGAGAAGGGAAGGGAGGAGAGAAGAAGGGAGGGGAAGGGA GGGGGAAGGGAGGGGAAGGAAGGGGGAAGGGAGGGGGAAGGGAAGGGAGG AGAGAAGAAGGGAGGGGGAAGGGAGGGGAAGGGAGGGGAGGAGAGAAGAA GAGAGGGGAAGGGAGGGGAGGAGGAGAAGGAGGAGGAAAGGAGGGAGGAG AGGAGGGGAGGAGGGGGGAGGGAGGGGAGGGAGGGAGGGGAGGGGAGGAG GGAGGGGAGGTGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGAGGGGAG GGGAGGAGGGAGGGAGGGGAGGAGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGAGGGAGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGG AGGGAGAAGGGAGGGGAGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGAAGAGGGGAGGGGGGGAGGGGAGAAGAGGGGAGGGGAGAG AGGGGAGGGGAGAAGAGGGGAGGGGAGGAGAAGAGAGGGAGGGGAGAAGA GGGGAGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGGAG GGGGAGGAAGAGGGAGAGGGGAGGGGAGGGGGAGGGGGAGAAGAGGGGAG GGGAGAAGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	88	0.0114	1019	c.158 others(1036): Show c.158-5542_158-5541insCTCCCCTCCCCTCTTCTCCCCTCCCCTC TTCTCCCCCTCCCCCTCCCCTCCCCTCTCCCTCTTCCTCCCCCTCCCCTC TTCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTCTCCCTCCCCTCTTCTCC CCTCCCTCTCTTCTCCTCCCCTCCCCTCTTCTCCCCTCCCCTCTCTCCCC TCCCCTCTTCTCCCCTCCCCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCTCCCCTCCCTTCTCCCTCCTCCCCC TCCCCTCCCTCCTCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCTCCCTCCTCCCCTCCCCTC CCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCACCTCCCCTCCCTCCTCCC CTCCCCTCCCTCCCTCCCCTCCCTCCCCCCTCCTCCCCTCCTCTCCTCCC TCCTTTCCTCCTCCTTCTCCTCCTCCCCTCCCTTCCCCTCTCTTCTTCTC TCCTCCCCTCCCTTCCCCTCCCTTCCCCCTCCCTTCTTCTCTCCTCCCTT CCCTTCCCCCTCCCTTCCCCCTTCCTTCCCCTCCCTTCCCCCTCCCTTCC CCTCCCTTCTTCTCTCCTCCCTTCCCTTCTCCTCCCTTCCCCTCCCTTTC CCTCCCCTTCTTCTCTCTTCCCTCTCCCTTCCCCCTCCTTTCTTCTCTCT CCCTTCTTCTCTCTTCCTTCTTCTCTCTTCCCTCTCCCTTCCCCTCCCTT CTCTCTCCTCCCCCTCCCCTCCCCTCCCCTCCCTTCCTCTCTTCTTTTCC CCTCCCCTCCTCTCCCTTCCCCTCTTCTTTTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTTCCCCTCTCTTCTTTTCCCCCTCCCCTCCCCTCCCTTCCC CTCTCTTCTTTTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCC TTCCCTTCCCCTCTCTTCTTTTCCCCTCCCTTCCCCTCTCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DYSF_chr2_71448561_71691763	71618373	A A	ATGTGTGG others(1012): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGG GTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTG GAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGT GTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA GAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGT GTGTGGAGTAGAGGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0142 a0001c0007t0002g0142	1	192	0.0052	1019	c.441 others(1038): Show c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGT AGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG TGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618373	A A	ATGTGTGG others(1012): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGG GTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTG GAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGT GTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA GAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGT GTGTGGAGTAGAGGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0139 a0001c0007t0001g0139	1	208	0.0048	1019	c.446 others(1038): Show c.4465-2159_4465-2158insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGT AGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG TGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EVC_chr4_5706201_5819305	5706453	C C	CATACATA others(1012): Show CATACATACATACATACATACATACATAGATAGATAGATACATAGATACA TACATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATA GATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGATAGA TAGATAGATACATAGATACATAGACAGATAGATAGATACATAGATAGATA GATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATACATAGAGATACATAGATAGATAGATAGATACATACATACA TACATAGATACATAGATAGATAGATAGATACATAGATACATACATACATA GATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAGA TAGATACATACATACATAAATAGATAGATACATAGATAGATACATAGATA GATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAGATAGATACATAGATAGATACATAGATAGACAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGA TACATAGATAACATACATAGATAGATAGATACATACATACATACATACAT AGATACATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAC ATACATACATACATACATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATACATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0032 a0003c0001t0002g0032	1	369	0.0027	1019	c.-49 others(1030): Show c.-4928_-4927insATACATACATACATACATACATACATAGATAGAT AGATACATAGATACATACATAGATAGATAGATAGATACATAGATAGATAC ATACATACATAGATAGATAGATACATAGATACATAGATAGATACATAGAT AGATAGATAGATAGATAGATAGATACATAGATACATAGACAGATAGATAG ATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGAT AGATACATAGATAGATAGATAGATACATAGAGATACATAGATAGATAGAT AGATACATACATACATACATAGATACATAGATAGATAGATAGATACATAG ATACATACATACATAGATAGATAGATAGATAGATACATAGATAGATACAT ACATACATAGATAGATAGATACATACATACATAAATAGATAGATACATAG ATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGACAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGAT ACATAGATAGATAGATACATAGATAACATACATAGATAGATAGATACATA CATACATACATACATAGATACATAGATAGATAGATACATAGATACATAGA TAGATAGATAGATACATACATACATACATACATAGATACATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGA TACATAGATAGATAGATACATAGATACATAGATAG	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4747		chr4	TogoVar
FAM234A_chr16_229821_271096	239175	C C	CTGTAGTC others(1012): Show CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGGGCTTGCAGTGAGCCGAGATCACGCCACTACACTCGAGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGCAAACATA ATGAAAATTAAAAAATTTTTAAAAAAACCCTGCAAACTTGGTGAATTTTT TACCGACTCGTGCTTTGCAAAATTCTTCATGGAACTTAGATTATATCAGA ATGTAAAAAAAAAAAAAAAAAAAAAAGAATGCTGACTCCTAACCAAATAA CTATGAAGCAGATGCTGAGAGATCAAAGGAGCAAATCTAAAAATCATCAG AGATGGGGCCTGGGGGAGAAGTATGCTGGCTTATAGATGAAAATGACTGG CTCTGTGTTGATAACTGTTGATAACTGTTGGACCTGGGTAATGGGTTTAT GAGGCTGGTGTTCTCTACTTTTGTTAATGTTTGAGCATTTACATAATAAA GGTTTTTTTTTTTTCATTGTATATAGAAATGAGGACTCACTATGTTGCCC AGGCTGGCCTCAAATTCCCGGGCTCAAGTAGTCCTCCCTCCTCTGCCTCT TGAAGTGCTGAGATTATAGGCATGAGACACCACACCTGGATCAAAGGTTA AAAAAATAATGATAAAAGAAGTAAGTTGAGGCTACTGTGGGCACACTGCC CATGGGTTAGCCCTGCTGTGCAAGGATCAGAAAAAAAAAAAAAAGAAATT GAAGCTAAGGCCTAATTAACTGGCTTATCTTGTAGAGTTTAGCAGAAGTG ACCAAGTTTAGAGTTATACTTTATCTTTTTCTTTCTCTGCCCCCTACTTA ATGAAGGACAAAAATGAGTAACATGGCTGGGTGTGGTGGCTCACGCCTGT CATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGA GTTCGAGACCAGCATGGCCAACATGATGAAACCAAAATACAAAAGTTAGC CAGGCGTGGTGGCGGGCGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18981.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0001c0002 a0001c0017 others(4): Show a0001c0001 a0001c0002 a0001c0017 a0001c0018 a0001c0021 a0003c0004 a0014c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0002t0002 a0001c0017t0001 a0001c0018t0001 a0001c0021t0003 a0003c0004t0002 a0014c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(121): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0275 a0001c0001t0005g0009 a0001c0001t0005g0127 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0016g0009 a0001c0002t0002g0219 a0001c0002t0002g0346 a0001c0017t0001g0187 a0001c0018t0001g0151 a0001c0021t0003g0216 a0003c0004t0002g0138 a0003c0004t0002g0165 a0003c0004t0002g0174 a0003c0004t0002g0188 a0014c0014t0001g0270	137	408	0.3358	1019	c.-14 others(1038): Show c.-140+4341_-140+4342insCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGGGCTTGCAGTGAGCCGAGATCACGCCACTACACTCGAGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGCAAACATA ATGAAAATTAAAAAATTTTTAAAAAAACCCTGCAAACTTGGTGAATTTTT TACCGACTCGTGCTTTGCAAAATTCTTCATGGAACTTAGATTATATCAGA ATGTAAAAAAAAAAAAAAAAAAAAAAGAATGCTGACTCCTAACCAAATAA CTATGAAGCAGATGCTGAGAGATCAAAGGAGCAAATCTAAAAATCATCAG AGATGGGGCCTGGGGGAGAAGTATGCTGGCTTATAGATGAAAATGACTGG CTCTGTGTTGATAACTGTTGATAACTGTTGGACCTGGGTAATGGGTTTAT GAGGCTGGTGTTCTCTACTTTTGTTAATGTTTGAGCATTTACATAATAAA GGTTTTTTTTTTTTCATTGTATATAGAAATGAGGACTCACTATGTTGCCC AGGCTGGCCTCAAATTCCCGGGCTCAAGTAGTCCTCCCTCCTCTGCCTCT TGAAGTGCTGAGATTATAGGCATGAGACACCACACCTGGATCAAAGGTTA AAAAAATAATGATAAAAGAAGTAAGTTGAGGCTACTGTGGGCACACTGCC CATGGGTTAGCCCTGCTGTGCAAGGATCAGAAAAAAAAAAAAAAGAAATT GAAGCTAAGGCCTAATTAACTGGCTTATCTTGTAGAGTTTAGCAGAAGTG ACCAAGTTTAGAGTTATACTTTATCTTTTTCTTTCTCTGCCCCCTACTTA ATGAAGGACAAAAATGAGTAACATGGCTGGGTGTGGTGGCTCACGCCTGT CATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGA GTTCGAGACCAGCATGGCCAACATGATGAAACCAAAATACAAAAGTTAGC CAGGCGTGGTGGCGGGCGTATGTAGTCCCAGCTACTCGGGAGG	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM234A_chr16_229821_271096	239175	C C	CTGTAGTC others(1012): Show CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGGGCTTGCAGTGAGCCGAGATCACGCCACTACACTCGAGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGCAAACATA ATGAAAATTAAAAAATTTTTTAAAAAACCCTGCAAACTTGGTGAATTTTT TACCGACTCGTGCTTTGCAAAATTCTTCATGGAACTTAGATTATATCAGA ATGTAAAAAAAAAAAAAAAAAAAAAAGAATGCTGACTCCTAACCAAATAA CTATGAAGCAGATGCTGAGAGATCAAAGGAGCAAATCTAAAAATCATCAG AGATGGGGCCTGGGGGAGAAGTATGCTGGCTTATAGATGAAAATGACTGG CTCTGTGTTGATAACTGTTGATAACTGTTGGACCTGGGTAATGGGTTTAT GAGGCTGGTGTTCTCTACTTTTGTTAATGTTTGAGCATTTACATAATAAA GGTTTTTTTTTTTTCATTGTATATAGAAATGAGGACTCACTATGTTGCCC AGGCTGGCCTCAAATTCCCGGGCTCAAGTAGTCCTCCCTCCTCTGCCTCT TGAAGTGCTGAGATTATAGGCATGAGACACCACACCTGGATCAAAGGTTA AAAAAATAATGATAAAAGAAGTAAGTTGAGGCTACTGTGGGCACACTGCC CATGGGTTAGCCCTGCTGTGCAAGGATCAGAAAAAAAAAAAAAAGAAATT GAAGCTAAGGCCTAATTAACTGGCTTATCTTGTAGAGTTTAGCAGAAGTG ACCAAGTTTAGAGTTATACTTTATCTTTTTCTTTCTCTGCCCCCTACTTA ATGAAGGACAAAAATGAGTAACATGGCTGGGTGTGGTGGCTCACGCCTGT CATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGA GTTCGAGACCAGCATGGCCAACATGATGAAACCAAAATACAAAAGTTAGC CAGGCGTGGTGGCGGGCGTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	408	0.0025	1019	c.-14 others(1038): Show c.-140+4341_-140+4342insCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGGGCTTGCAGTGAGCCGAGATCACGCCACTACACTCGAGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGCAAACATA ATGAAAATTAAAAAATTTTTTAAAAAACCCTGCAAACTTGGTGAATTTTT TACCGACTCGTGCTTTGCAAAATTCTTCATGGAACTTAGATTATATCAGA ATGTAAAAAAAAAAAAAAAAAAAAAAGAATGCTGACTCCTAACCAAATAA CTATGAAGCAGATGCTGAGAGATCAAAGGAGCAAATCTAAAAATCATCAG AGATGGGGCCTGGGGGAGAAGTATGCTGGCTTATAGATGAAAATGACTGG CTCTGTGTTGATAACTGTTGATAACTGTTGGACCTGGGTAATGGGTTTAT GAGGCTGGTGTTCTCTACTTTTGTTAATGTTTGAGCATTTACATAATAAA GGTTTTTTTTTTTTCATTGTATATAGAAATGAGGACTCACTATGTTGCCC AGGCTGGCCTCAAATTCCCGGGCTCAAGTAGTCCTCCCTCCTCTGCCTCT TGAAGTGCTGAGATTATAGGCATGAGACACCACACCTGGATCAAAGGTTA AAAAAATAATGATAAAAGAAGTAAGTTGAGGCTACTGTGGGCACACTGCC CATGGGTTAGCCCTGCTGTGCAAGGATCAGAAAAAAAAAAAAAAGAAATT GAAGCTAAGGCCTAATTAACTGGCTTATCTTGTAGAGTTTAGCAGAAGTG ACCAAGTTTAGAGTTATACTTTATCTTTTTCTTTCTCTGCCCCCTACTTA ATGAAGGACAAAAATGAGTAACATGGCTGGGTGTGGTGGCTCACGCCTGT CATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGA GTTCGAGACCAGCATGGCCAACATGATGAAACCAAAATACAAAAGTTAGC CAGGCGTGGTGGCGGGCGTATGTAGTCCCAGCTACTCGGGAGG	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
FOXK2_chr17_82514732_82609602	82586196	C C	CAAAGGTG others(1012): Show CAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02572.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0005 a0012c0014t0005	a0012c0014t0005g0235 a0012c0014t0005g0235	1	308	0.0033	1019	c.157 others(1032): Show c.1576+2_1576+3insGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GPRIN1_chr5_176590802_176615156	176591775	G G	GTTGTGAT others(1012): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG01169.hp1 others(1): Show HG00735.hp1 HG01168.hp2 HG01169.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0081 a0002c0002t0001g0090 a0002c0002t0001g0038 a0002c0002t0001g0081 a0002c0002t0001g0090	4	397	0.0101	1019	c.50 others(1030): Show c.5032_*5033insTCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAA CACCAACACCATCATCACCACCATCACCATCACAA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4026		chr5	TogoVar
GTPBP6_chrX_299759_323796	309871	T T	TGAAATGA others(1012): Show TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACT GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC AGACAGAGGCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTG GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC AGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAA AGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTT GGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGAT CATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAG AGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCA GAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGG AGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTG GATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCA TGTATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGT CTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGAT TAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGA GGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAG TGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGA GGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTG AAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATC ATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGAT GTGATTAAGTGGAAGATCTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0002 a0027c0040t0002	a0027c0040t0002g0148 a0027c0040t0002g0148	1	155	0.0065	1019	c.112 others(1038): Show c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC CCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA TTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAA TGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTG GGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGC TCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCG TCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCC TTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGT CATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1012): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATATATTATATATAATATATATTATATATAA TATATATATTATATAAAATATATAATATATATCTTATATATATCATATAT TTTATATATATCATATATTTTATATATATCATATATTTTATATATAATAT ATATTATATATACATTATATAATATATATTATATTATATATAATATATTA TATAATATATATTATATATTATACGTAATATATAATGTATATTATATATA ATATACATTATATAATGTATATTATATATAATATACATTATATAATGTAT ATTATATATAATATACATTGTATACAATGTATATTATATATAATATACAT TGTATATAATGTATATTACATATAATATACATTATATAATGTATATTACA TATAATATACATTGTATATAATGTATATTACATATAATATACATTGTATA TAATGTATATTACATATAATATACATTATATATAATGTGTATATTACATG TAATATACATTATATATAATGTATATTATATGTAATATATACATTATATA ATGTGTATATTATATGTAATATATACATTATATAATGTGTATATTATATG TAATATATACATTATATATAATGTATATATTATATGTAATATATACATTA TATATAATGTATATATTACATGTAATATATACATTATATATAATGTATAT TATATGTAATATATACATTATATATAATGTATATTATATGTAATATATAC ATTATATATAATGTATATTATATGTAATATATACATTATATAATGTATAC ATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0182	1	350	0.0029	1019	c.94- others(1032): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATATATTATATATA ATATATATTATATATAATATATATATTATATAAAATATATAATATATATC TTATATATATCATATATTTTATATATATCATATATTTTATATATATCATA TATTTTATATATAATATATATTATATATACATTATATAATATATATTATA TTATATATAATATATTATATAATATATATTATATATTATACGTAATATAT AATGTATATTATATATAATATACATTATATAATGTATATTATATATAATA TACATTATATAATGTATATTATATATAATATACATTGTATACAATGTATA TTATATATAATATACATTGTATATAATGTATATTACATATAATATACATT ATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACAT ATAATATACATTGTATATAATGTATATTACATATAATATACATTATATAT AATGTGTATATTACATGTAATATACATTATATATAATGTATATTATATGT AATATATACATTATATAATGTGTATATTATATGTAATATATACATTATAT AATGTGTATATTATATGTAATATATACATTATATATAATGTATATATTAT ATGTAATATATACATTATATATAATGTATATATTACATGTAATATATACA TTATATATAATGTATATTATATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1012): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATAATA TATATATTATATATAATATATATTATATATAATATATATATTATATAAAA TATATAATATATATCTTATATATATCATATATTTTATATATATCATATAT TTTATATATATCATATATTTTATATATAATATATATTATATATACATTAT ATAATATATATTATATTATATATAATATATTATATAATATATATTATATA TTATACGTAATATATAATGTATATTATATATAATATACATTATATAATGT ATATTATATATAATATACATTATATACAATGTATATTATATATAATATAC ATTGTATATAATGTATATTACATATAATATACATTGTATATAATGTATAT TACATATAATATACATTATATAATGTATATTACATATAATATACATTGTA TATAATGTATATTACATATAATATACATTGTATATAATGTATATTACATA TAATATACATTATATATAATGTGTATATTACATGTAATATACATTATATA TAATGTATATTATATGTAATATATACATTATATAATGTGTATATTATATG TAATATATACATTATATATAATGTATATATTATATGTAATATATACATTA TATATAATGTATATATTACATGTAATATATACATTATATATAATGTATAT TATATGTAATATATACATTATATATAATGTATATTATATGTAATATATAC ATTATATATAATGTATATTATATGTAATATATACATTATATAATGTATAC ATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	350	0.0029	1019	c.94- others(1032): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATAATATATATATTATATATAATATATATTATATATAAT ATATATATTATATAAAATATATAATATATATCTTATATATATCATATATT TTATATATATCATATATTTTATATATATCATATATTTTATATATAATATA TATTATATATACATTATATAATATATATTATATTATATATAATATATTAT ATAATATATATTATATATTATACGTAATATATAATGTATATTATATATAA TATACATTATATAATGTATATTATATATAATATACATTATATACAATGTA TATTATATATAATATACATTGTATATAATGTATATTACATATAATATACA TTGTATATAATGTATATTACATATAATATACATTATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATTACATATAATATACATTGTAT ATAATGTATATTACATATAATATACATTATATATAATGTGTATATTACAT GTAATATACATTATATATAATGTATATTATATGTAATATATACATTATAT AATGTGTATATTATATGTAATATATACATTATATATAATGTATATATTAT ATGTAATATATACATTATATATAATGTATATATTACATGTAATATATACA TTATATATAATGTATATTATATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1012): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATAATATATTATATATACATTAT ATAATATATATTATATTATATATAATATATTATATAATATATATTATATA TTATACGTAATATATAATGTATATTATATATAATATACATTATATAATGT ATATTATATATAATATACATTATATACAATGTATATTATATATAATATAC ATTGTATATAATGTATATTACATATAATATACATTATATAATGTATATTA CATATAATATACATTGTATATAATGTATATTACATATAATATACATTGTA TATAATGTATATTACATATAATATACATTATATATAATGTGTATATTACA TGTAATATACATTATATATAATGTATATTATATGTAATATATACATTATA TAATGTGTATATTATATGTAATATATACATTATATATAATGTATATATTA TATGTAATATATACATTATATATAATGTATATATTATATGTAATATATAC ATTATATATAATGTATATTACATGTAATATATACATTATATATAATGTAT ATTACATGTAATATATACATTATATATAATGTATATTATATGTAATATAT ACATTATATATAATGTATATTATATGTAATATACATTATATAATGTATAC ATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	350	0.0029	1019	c.94- others(1032): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATAATA TATTATATATACATTATATAATATATATTATATTATATATAATATATTAT ATAATATATATTATATATTATACGTAATATATAATGTATATTATATATAA TATACATTATATAATGTATATTATATATAATATACATTATATACAATGTA TATTATATATAATATACATTGTATATAATGTATATTACATATAATATACA TTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATTACATATAATATACATTATAT ATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATAT GTAATATATACATTATATAATGTGTATATTATATGTAATATATACATTAT ATATAATGTATATATTATATGTAATATATACATTATATATAATGTATATA TTATATGTAATATATACATTATATATAATGTATATTACATGTAATATATA CATTATATATAATGTATATTACATGTAATATATACATTATATATAATGTA TATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATA CATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HTRA3_chr4_8264754_8312098	8294662	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCATTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	388	0.0026	1019	c.105 others(1036): Show c.1051+461_1051+462insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294662	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG00609.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0162 a0001c0001t0001g0081 a0001c0001t0001g0162	2	388	0.0052	1019	c.105 others(1036): Show c.1051+461_1051+462insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294662	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCGTCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCATTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	388	0.0026	1019	c.105 others(1036): Show c.1051+461_1051+462insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCGTCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294666	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	388	0.0026	1019	c.105 others(1036): Show c.1051+465_1051+466insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCCGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294666	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00642.hp1 others(37): Show HG00140.hp1 HG00544.hp1 HG00642.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02486.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18947.hp1 NA18948.hp2 NA18971.hp1 NA18982.hp1 NA18994.hp2 NA19002.hp1 NA19005.hp1 NA19070.hp2 NA19083.hp2 NA20905.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0006 a0001c0001 a0002c0002 a0010c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0002c0002t0001 a0010c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(34): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0294 a0001c0001t0001g0330 a0001c0001t0001g0341 a0001c0001t0003g0161 a0001c0001t0013g0174 a0001c0001t0015g0205 a0002c0002t0001g0057 a0010c0006t0001g0064	40	388	0.1031	1019	c.105 others(1036): Show c.1051+465_1051+466insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294666	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCTGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp2 HG02602.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0169 a0001c0001t0001g0126 a0001c0001t0001g0169	2	388	0.0052	1019	c.105 others(1036): Show c.1051+465_1051+466insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294666	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCGTCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	388	0.0026	1019	c.105 others(1036): Show c.1051+465_1051+466insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCGTCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1012): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCATCCA CTTATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATT CACTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCA CCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACC ATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCAT CCATCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATAC ATCCGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACAC CCATCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCC ATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCAC TCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCA TCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(70): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp2 HG02074.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03654.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp2 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0013 a0007c0010 a0001c0001 a0005c0013 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0020 a0005c0013t0001 a0007c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(63): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0001g0350 a0001c0001t0002g0133 a0001c0001t0003g0036 a0001c0001t0003g0096 a0001c0001t0004g0176 a0001c0001t0005g0120 a0001c0001t0005g0320 a0001c0001t0009g0325 a0001c0001t0017g0086 a0001c0001t0020g0245 a0005c0013t0001g0097 a0007c0010t0001g0278	73	388	0.1881	1019	c.105 others(1036): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCA TCCATTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACC CAGCCACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCAC TCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTAT CCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACCCACC CATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1012): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCA TCTTTCCACCTACCCTTTTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 NA20300.hp1 HG00741.hp2 HG01167.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0053	3	388	0.0077	1019	c.105 others(1036): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACCCACC CATCTTTCCATCCACCCATCTTTCCACCTACCCTTTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1012): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACGCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCATCCA CTTATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATT CACTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCA CCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACC ATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCAT CCATCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATAC ATCCGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACAC CCATCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCC ATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCAC TCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCA TCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18953.hp1 NA18960.hp1 others(7): Show NA18942.hp1 NA18953.hp1 NA18960.hp1 NA18967.hp1 NA18972.hp2 NA18980.hp1 NA18998.hp1 NA19010.hp2 NA19060.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0001 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0026 a0001c0001t0001g0123 a0001c0001t0001g0277 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0123 a0001c0001t0001g0277 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0332 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0018g0354	10	388	0.0258	1019	c.105 others(1036): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACGCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCA TCCATTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACC CAGCCACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCAC TCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTAT CCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACCCACC CATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1012): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCATCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCA TCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02615.hp1 others(5): Show HG02055.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0002g0033 a0001c0001t0002g0095 others(5): Show a0001c0001t0001g0164 a0001c0001t0002g0033 a0001c0001t0002g0095 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0185	8	388	0.0206	1019	c.105 others(1036): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCATCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACCCACC CATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294670	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02647.hp2 NA19030.hp2 HG01074.hp2 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0054 a0001c0001t0001g0145 a0001c0001t0001g0160	3	388	0.0077	1019	c.105 others(1036): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294671	T T	TCCACTTA others(1012): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCAC CCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCACC TATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCA TTCACCCACCCACTCATCCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCA CCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCATT CATCCATCCATCCATCCGCCCACCCAGCCACCCATCCATCCACCCACCCA CCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATCC ATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTAT CCATCCATTGACCCATCCATTCACTCATTCATCCATCCATACATCCGCCC ACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCAT CCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATCC ATCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCA TCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0186 a0002c0002t0001g0067 a0001c0001t0004g0186 a0002c0002t0001g0067	2	388	0.0052	1019	c.105 others(1036): Show c.1051+473_1051+474insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCTTTCT ATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTTACCA TCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCATTCA CCCATCCATTCACTCATTCATCCATCCATCCATCCGCCCACCCAGCCACC CATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCACCCA CCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCCATCC ACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCATTCAT CCATCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCCATCC ACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCATTCAC CCACCCACCCATCCATCCATCCACCCATCCATCCAATCATCCATTCATCC ATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACCCACC CATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294678	A A	ACTTATCC others(1012): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACAC CTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCC ATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0059 a0002c0002t0010g0059	1	388	0.0026	1019	c.105 others(1036): Show c.1051+477_1051+478insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCCGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(1012): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCAC AGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCC CCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCG CCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACA GCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCTC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCC CGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	312	0.0032	1019	c.-41 others(1034): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCAC AGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCT CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCC CCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(1012): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTG TTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCA GGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACA GTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCGG GGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	324	0.0031	1019	c.141 others(1036): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCACTGTCCCTGCCCATCCCCCCCA CTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCC AACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACT GTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCT GCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCA CTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCGCCCCACTGTCCCTG CCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCC CCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA CCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCA CTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCCT GCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCA CTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	949221	G G	GCGGCCTC others(1012): Show GCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTCC CCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC GTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	242	0.0041	1019	c.360 others(1038): Show c.360+30097_360+30098insGGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTA GGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG TAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRL1_chr20_64075082_64105633	64097040	C C	CCGTCACC others(1012): Show CCGTCACCATCATCACCATCCTATCACCACCACCACCATCATCACCATCA CCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACC ACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCAT CATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCA TCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACC ACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCAC CATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAG TCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATC ACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCAC TATCACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCA CCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACC ATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCAC CACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCA CCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACA GTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCAT CATCACCATCACCATCATCACAATCATCACTGTCACCATCATCACCATCC TCACTATCACCACCACCACCATCATTACCATCACTATCATCACAGTCATC ACCGTCACCATCATCACCATCCTCACTATCACCACCACTACCATCATCAT CACATTCATCATCACTATTACCATCATCATCACCACCATCACCATCACTA TCACCACCATCATTACATTTGTCACCATCACCACCATTATCACCATCACC GCTATCACCACCACCACCGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0012 a0001c0005t0006g0012	1	66	0.0152	1019	c.234 others(1034): Show c.234-761_234-760insGTCACCATCATCACCATCCTATCACCACCA CCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATC ACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCAC AGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCA TCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATC CTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAGTCAT CACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCA CCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACT ATCACCACCACCACCATCACCATCACCATCATCACAGTCATCACCGTCAC CATCATCACCATCCTCACTATCACCACCACCATCATCACCATCACCATCA TCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACC ACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCAC CATCCTCACTATCACCACCACCATCATCACCATCACCATCATCACAGTCA TCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATC ACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCAC TATCACCACCACCACCATCATCACCATCACCATCATCACAATCATCACTG TCACCATCATCACCATCCTCACTATCACCACCACCACCATCATTACCATC ACTATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCAC CACCACTACCATCATCATCACATTCATCATCACTATTACCATCATCATCA CCACCATCACCATCACTATCACCACCATCATTACATTTGTCACCATCACC ACCATTATCACCATCACCGCTATCACCACCACCACCGTC	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(1012): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCC CCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCAC CCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACC TCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTTCCCTCCCCCCTCACCCTGCACCTCC CTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCC CTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTC CCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCA CCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTC CCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTG CACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGC ACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCC TCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	360	0.0028	1019	c.35 others(1030): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCC CACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTC CACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACC CTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTC CCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACC TCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCC TGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTCCCTCCCCCC TCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCA CCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACC TCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCC TCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCAC CTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(1012): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	312	0.0032	1019	c.306 others(1038): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(1012): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGG AGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCA GAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGG CCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTT CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0241 a0001c0001t0061g0241	1	295	0.0034	1019	c.126 others(1038): Show c.1265+3387_1265+3388insGGCCCTTCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGGA GACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCG GGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAG AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGC CCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGGAGACCCGAGGCCGC CCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCG GGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(1012): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0014 a0002c0002t0004g0014	1	324	0.0031	1019	c.115 others(1036): Show c.115-2552_115-2551insTATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GATGAAGG others(1012): Show GATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGA GGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAG GCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAG GGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGG AGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGAAGGGAGGAG GAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGA GGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAAGGAGAAGGAGGGAGGGAG GAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAAAAGGA GGGAGGGAAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0169 a0001c0007t0005g0169	1	214	0.0047	1019	c.206 others(1038): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTT TCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCT CCCTCCTTCTCCTTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTC CCTTCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTT CTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCC CTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCT CCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCC TCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCC CTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCC TTCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCAT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SPATA3_chr2_230991121_231013040	231005580	T T	TCATCACC others(1012): Show TCATCACCACCACCATCATCACCACCACCATCACCATCATCACCACCACC ATCACCATCATCATCACCACCACCACCATCATCACATCACTATCATCACC ACCACCATCACCATCATCATCACCATCACCATCATCACCATCACCATCAC CACCATCAACATCACCATCATCACCATCACCATCATCACCACCATCATCA CCATCACCATCACCACCATCATCATCACCATCACCATCATCATCATCACC ACCATCATCACCACCATTACCATCATCATCACTATCACCACCACCACCAT CACCATCACCACCATCACCATCACCACCACCACCATCACCATCACCACCA CCACCATCACCATCATCACCACCACCACCATCACCATCACCACCACCACC ACCATCATCACTACCACCACCACCATCATCACCACCATCATCACCACCAT GACCATCGTCACCACCACCATCATCACCACCATAATCACCACCACCATCA TCACCGTCACCATCATCACCACTACCATCACCACCACCACCATCATCACC ACCACCATCATCACCATCATCATCATCATCATCACCACCACCATCATCAC CACCACCACCATCATCATCACCACCACCACCATCATCACCATCATCATCA CCATCACCATCATCATAACCATCACTATCACCACCACCACCACCATCACC ACCACCATCACCATCATCACTGCCATCATCACCATCACCATCATCACCAC CACCATCACCACCACCATCACCACCACCACCACCATCACCATCACCATCA CCACCACCACCATCACCATCATCACCGCCATCATCACCATCACCATCACC ACCACCATCGCCATCATCACCGCCATCATCACCATCACCATCACCATCAC CACCAGCATCACCATCATCATCACCACCACCATCATCACCATCATTACCA CCATCACCATCAGCATCGCGATCATCATCACCATTATCATCACCACCACC ATCATCACCATCATCATCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0073 a0003c0003t0001g0073	1	436	0.0023	1019	c.11 others(1038): Show c.118+1467_*118+1468insCCACCACCATCATCACCACCACCATC ACCATCATCACCACCACCATCACCATCATCATCACCACCACCACCATCAT CACATCACTATCATCACCACCACCATCACCATCATCATCACCATCACCAT CATCACCATCACCATCACCACCATCAACATCACCATCATCACCATCACCA TCATCACCACCATCATCACCATCACCATCACCACCATCATCATCACCATC ACCATCATCATCATCACCACCATCATCACCACCATTACCATCATCATCAC TATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA CCATCACCATCACCACCACCACCATCACCATCATCACCACCACCACCATC ACCATCACCACCACCACCACCATCATCACTACCACCACCACCATCATCAC CACCATCATCACCACCATGACCATCGTCACCACCACCATCATCACCACCA TAATCACCACCACCATCATCACCGTCACCATCATCACCACTACCATCACC ACCACCACCATCATCACCACCACCATCATCACCATCATCATCATCATCAT CACCACCACCATCATCACCACCACCACCATCATCATCACCACCACCACCA TCATCACCATCATCATCACCATCACCATCATCATAACCATCACTATCACC ACCACCACCACCATCACCACCACCATCACCATCATCACTGCCATCATCAC CATCACCATCATCACCACCACCATCACCACCACCATCACCACCACCACCA CCATCACCATCACCATCACCACCACCACCATCACCATCATCACCGCCATC ATCACCATCACCATCACCACCACCATCGCCATCATCACCGCCATCATCAC CATCACCATCACCATCACCACCAGCATCACCATCATCATCACCACCACCA TCATCACCATCATTACCACCATCACCATCAGCATCGCGATCATCATCACC ATTATCATCACCACCACCATCATCACCATCATCATCACCATCA	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(1012): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGGTTGCCTGGGGGGGGCCCAGCGGGGGGTGGGGTTGCCTGGGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCCGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	1019	c.64 others(1030): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCGGGCAAC TCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCC CGCTGGGCCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGG CAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCC CACCCCCCGCTGGGCCCCCCCCAGGCAACCCCCACCCCCGCTGGGCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar

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Search Results (Total: 10000 hits)