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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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
RPH3AL_chr17_207389_357807	287555	TCTCTCCA others(1275): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACC GACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTC CACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTC TCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTCTC TCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTC ACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTCTCCA CCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTC CACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0054 a0006c0009t0001g0054	1	133	0.0075	-1282	c.352 others(17): Show c.352-6983_352-5702del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
ZNF516_chr18_76352682_76500242	76392951	GGGGAAGG others(1275): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02818.hp1 HG02896.hp1 others(3): Show HG00099.hp1 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG04184.hp1 NA19043.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0015c0036	a0001c0001t0001 a0001c0001t0178 a0001c0002t0128 others(3): Show a0001c0001t0001 a0001c0001t0178 a0001c0002t0128 a0001c0005t0062 a0001c0005t0111 a0015c0036t0134	a0001c0001t0001g0157 a0001c0001t0178g0093 a0001c0002t0128g0041 others(3): Show a0001c0001t0001g0157 a0001c0001t0178g0093 a0001c0002t0128g0041 a0001c0005t0062g0038 a0001c0005t0111g0071 a0015c0036t0134g0040	6	346	0.0173	-1282	c.181 others(21): Show c.1811-13930_1811-12649del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
LOC400499_chr16_11367015_11532247	11509886	ATGTATCT others(1274): Show ATGTATCTGTAAGTACACAGAATTTGTCTGGAAGAGTATACTGGAAGCCA GGAATGGAGTGAGCCTCTGGAGAGGGGGGACTCATTTTAACCGTGTCCTT TTGTACCATGTCACACATCACCTTGTCAAAACAATAAATCTTAATCTCTC TCATGCATTCGTCCTGTGACTGCTTCCTAATAAAGATGGGTGATGGCAGA AACTGCCCTCTGCTCTACACACAGCCATGGTGTTAAACTTCCCTGAGCCC CGCTTGGACCCCCACATCTCAGCCAAAGACCTACCCTCGAATCCACAGTC CACACCTCCCTCAGCTTCAATGCTCCTTAGCAAAGGCGTGTGCCTTCTAG ATGCTGTCCAACACCATCTGGCTGCCTGCAGGCCTGGGCACCTGCCCTCG CAGTGTGTCTAGCTCCACACAGGTGCACACATTCATCCATCTAATCCTCA GACCTCTCCTTAGCCCCCCAGGTGCCTGGGACACACAGAGGTCGTGCCTG CCCCAGGGCCTTTGCACTTCCTGTTTCCGCCCTGAATGCTCTTTCCTGCA TCTTCCCAAAGCTGACCTTGTCTTATCCTTCATTACTTTCTCAGAGAGGC CCTCTTGGCGCCCCTGTCTAAGTCACTGGCTGTCATGCAGCTGTTTAATT TCTTTCCTGACATGGATCACAGTCTCAAGCCACCTTGACTAGGCTTTTTC CCCATCAATGATTTCCCCCTCCCAGGAGGGTGTCAGCCTCAGGGTGGCAG AAATGGAGTTGACCATGATCACAGGCCTGTCCCCAGAGCCCCGGCAGTGC TCAGCACACAACAGGTGCTCAGACAAGCATTTCGGGTAAGCATGAATGAA AACACACTCCTGATGACCTGCCAAGAATCTGCAAACCTAAGGAGAATTCT CCCACGACAGTTGGGAACCAGATGACTCCAACCCAGGGAGGAAGACAGGG CCAAGCCAGGGCCATCTGAGCCCAGCGCGGAACTTCAAGGAGGGATAAAG TCTCATTTCTGAGTATGCCTTTGGGATCAGGCCCTAAAGAACGGGGCCAG GATGATGTGAACCAGTGCTCACAGAGGCCACGTGCCAGGTGCTTAGCTAA AGGCAATGATGATTTTCTTTTTTTTTTTTTCAGAAGGGGTCTCACTCTGT CGCCAGGCTGGAGTGCAGTGACGCGATCACAGCTCACTGCAGCCTCGACC TTCTGGGCTCAGGTGATCCTCCCACTTCAGACTCTCAAGCAGCTGGAATT ACAGACACACACCACCATGCCTGGCTAATTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG00741.hp2 others(7): Show HG00408.hp1 HG00738.hp1 HG00741.hp2 HG01243.hp2 HG02155.hp1 HG02486.hp2 HG02602.hp2 HG03098.hp1 HG04115.hp1 NA19043.hp2	a0025 a0245 a0246 others(6): Show a0025 a0245 a0246 a0247 a0248 a0249 a0250 a0251 a0252	a0025c0020 a0245c0052 a0246c0051 others(6): Show a0025c0020 a0245c0052 a0246c0051 a0247c0046 a0248c0048 a0249c0047 a0250c0049 a0251c0050 a0252c0045	a0025c0020t0003 a0245c0052t0003 a0246c0051t0006 others(6): Show a0025c0020t0003 a0245c0052t0003 a0246c0051t0006 a0247c0046t0002 a0248c0048t0001 a0249c0047t0001 a0250c0049t0002 a0251c0050t0002 a0252c0045t0004	a0025c0020t0003g0088 a0025c0020t0003g0089 a0245c0052t0003g0037 others(7): Show a0025c0020t0003g0088 a0025c0020t0003g0089 a0245c0052t0003g0037 a0246c0051t0006g0235 a0247c0046t0002g0295 a0248c0048t0001g0270 a0249c0047t0001g0221 a0250c0049t0002g0057 a0251c0050t0002g0194 a0252c0045t0004g0164	10	310	0.0323	-1281	c.836 others(17): Show c.836-2312_836-1032del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	7/66			chr16	TogoVar
ANO7_chr2_241183677_241230976	241205290	TCAGGAGT others(1273): Show TCAGGAGTGCTCCCAGGCTGGCACCGGTGGATAGGAGTGCTCCCAGGCTG ACAGGTGGTCAGGAGTGCTCCCAGGCTGATAGGTGGACAGGAGTGCTCCC AGGCTGACAGGTAGCTAGGACTGCTCTCAGGCTGAAACAGGTAGACAGGT GTGCTCTCAGGCTGACACAGGTGGATAAGAGTGCTCCAAGGCTGACACAG GTGGACAGGAGTGCTCCCAGTCTGACAGGTGGACAGGAGTGCTCCAAGGC TGACACAGGTGGACAGGAGTGCTCCCAGTCTGACAGGTGGACAGGAGTGC TCCCAGGCTGACACAGGTGGACAGGAGTGCTCCCAGCCTGACACAGGTGG GCAGGAGTGCTCCCAGCCTGACACAGGTGGACAGGAGTGCTCCAAGGCTG ACACAGGTGGACAGGAGTGTTCCCAGTCTGACAAGTGGACAGGAGTGCTC CCAGGCTGACAGGTGGACAGGAGTGCTCCCAGTCTGACAGGTGGACAGGA GTGCTCCCAGTCTGACAGGTGGACAGGAGTGCTCCCAGGCTGACAGGTGG GCAGGAGTGCTCCCAGCCTGACACAGGTGGGCAGGAGTGCTACCAGGCTG ACACAGGTGGACAGGAGTGCTCCCAGGCTGACATAGGTGGACAGGAGTGC TCCCAGCCTGACAGGTGGACAGGAGTGCTCCCAGGCTGACACAGGTGGAC AGGAGTGCTCCCAGCCTGACACAGGTGGGCAGGAGTGCTCCCAGCCTGAC ACAGGTGGACAGGAGTGCTCCAAGGCTGACAGGTGGACAGGAGTGCTCCC AGGTTGACACAAGTGGACAGGAGTGCTCCCAGTCTGACAGGTGGACAGGA GTGCTCCCAGGCTGACAGCTGGGCAGGAATGCTCCCAGCCTGACACAGGT GGGCAGGAGTGCTCCCAGGCTGACACAGGTGGACAGGAGTGCTCCCAGGC TGACAGGTGGACAGGAGTGCTCCCAGGCTGACACAGGTAGACAGGAGTGC TCCCAGTCTGACAGGTGGACAGGAGTGCTCCCAGGCTGACAGGTGGACAG GAGTGCTCCCAGGCTGACACAGGTGGTCAGGAGTGCTCCCAGTCTGACAG GTGGACAGGAGTGCTCCCAGGCTGACACAGGTGGACAGGAGTGCTCCCAG CCTGACACAGGTGGGCAGGAGTGCTCCCAGCCTGACACAGGTGGACAGGA GTGCTCCAAGGCTGACACAGGTGGACAGGAGTGTTCCCAGTCTGACAAGT GGACAGGAGTGCTCCCAGGCTGACAGGTGGA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0349 a0001c0001t0006g0349	1	396	0.0025	-1280	c.980 others(15): Show c.980+351_981-989del	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDH4_chr20_61247261_61945617	61943184	CTCTCACC others(1273): Show CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCCTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACAACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCC TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0027 a0002c0004t0027	a0002c0004t0027g0098 a0002c0004t0027g0098	1	106	0.0094	-1280	c.62 others(11): Show c.6242_*7521del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2568		chr20	TogoVar
CTCFL_chr20_57492166_57530140	57504178	GTGTTAGC others(1273): Show GTGTTAGCCAGGATGGTCTCGATCTCCTGATATTGTGATCTGCCCACCTT GGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGCCCCC CGTCTCCTTTTTTTTTTTTGAGATGGGAGTCTCGCTCTGTCACCCAGGCT GGAGTGCAGTGGCATGGTGTCAGCTCACTGCAACCTCTACTTCCCAGGTT CAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGGTGGGACTACAGGCGAG TGCCACCACACCCAGCTAATTTTTGTTATTTTTAGTAGAGACAGTGTTCC ACCATGCTGGCCAGGCTGGACTCAAAACTCCTGACCTCAAGTGATCCACC TGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACTG GCCAAGATAACATCCTAACATCCGTCCCTGAGTTGTTTTTTAGAAACCTG GCTCTTTACCAAACAGGTCCACCGGCAGGGAGACCTAAGATAAGGAGGAC CTGGGGGCTGAAATCTGACCACTGCTAAATTTGTTCTAATTTTGTTCTTA ATTTCCTCCTGAGAGGCCTAGAGGAGGTCATGCCTCGTGAACCAGAGCTA ATACTCTTTTCTCAAAATTTTAAACAAAACTTCTCTTCCTTAACCAATTG CAAACCAGTCTCTGAATCTACCTACAACCTGTAAGCCCTTGCTGCAAGAT ATCCTGCCCTTTTAGGGCAAGGTATCCTCCATGCGCTGATTTATAATTTT GTCTGTAGCTTCTGCTTCCTTGGCACCCTGCAAATAAACTCCTGCTGCAA ACTGTGGTGTGGATATCTGGTCTTACTGCACCAGGCAAGCAGACCCCAGT TTGGTTCTATAACAAGAGTCGGCTTCCCCAAAGGCACTGAAAAATGCACA GTTAAAGAGATGGCCTTTGGGAAAACTGTGGGTAGCATGCACCTTTGATA ATCTTGTGCAAAAATGATGACTTTTTAAAGGTGACCCTTTCTGTTGTGCT TAGCTCTAGCCAAAAGCTAGCTTGCTTTAAGTATTTTTTTTTAATAATAG AAATCAATGAGAAGACAAAATTTATTTATTTATTTATTTATTTTTTGAGA CGGAGTCTTGCTCTTTCGTCTAGGCTGGAGTGCAGTGGCACGATCTCTGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTT TGTATTTTTCAGTAGAGATGGGGTTTCACCA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0127 a0003c0003t0002g0127	1	424	0.0024	-1280	c.167 others(18): Show c.1675-1857_1675-578del	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding	9/10			chr20	TogoVar
JAKMIP3_chr10_132060946_132189858	132160250	ACTGTGTG others(1273): Show ACTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCT ATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCC TCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTTATTGAGGGG GCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGG GGTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGATGCTGGGG GGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGG GGGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTG GGGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGAT GCTGGTGGGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTG TGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTG TGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCC TGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTA CTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCAGGCGGTGG CCTCTTCCTGTGTGATGCTAGGGGGTCTCTTCCTGTGTGATGCTGGGTGG GCCTCTCCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGG GGGGCCTCTCACTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTG GGGGCGTGTCTTTCTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGC TGGGGGGGGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGA TGCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGA TGCTGGGGGACCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTG ATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGTGGTCTCTCCCTGTG TGATGCTGGGGTGGTCTCTCCCTGTGTGATGTTGGGGGGGCGGTCTCCCT GTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATT CCTGTGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTC TTCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTGGGGGGGT CTCTTCCTGTGTGATGCTGGGGGGCCTCTCC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0096 a0002c0005t0011g0096	1	158	0.0063	-1280	c.222 others(19): Show c.2221-2939_2221-1660del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
DACT2_chr6_168301904_168324777	168316331	CTGGTGCA others(1272): Show CTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTT CCCATCACGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTC ACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGC AGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGA GCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAG CATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTC GTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAAC ACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCT GTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCT GGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGT AACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCG ATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCC CATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCA GAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCAC CTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGA GGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCT CGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTG CTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACA ACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGC TGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGC AAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACAC GTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCATCTCGGCA GCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAG CTGAGGTCACGCAGAAGCTGCGATTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00673.hp1 others(74): Show HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01361.hp1 HG01496.hp2 HG01981.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG03195.hp1 HG03471.hp2 HG03710.hp1 HG03927.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0013 a0019 a0022	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0003c0004 a0006c0008 a0013c0018 a0019c0026 a0022c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0002c0002t0005 a0002c0003t0003 a0002c0003t0006 a0002c0005t0003 a0002c0005t0006 a0003c0004t0008 a0006c0008t0006 a0013c0018t0006 a0019c0026t0001 a0022c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0051 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0002g0090 a0001c0001t0002g0134 a0001c0001t0002g0151 a0001c0001t0002g0179 a0001c0001t0011g0052 a0001c0001t0014g0282 a0002c0002t0005g0223 a0002c0002t0005g0279 a0002c0003t0003g0109 a0002c0003t0006g0280 a0002c0003t0006g0283 a0002c0003t0006g0289 a0002c0005t0003g0180 a0002c0005t0006g0009 a0002c0005t0006g0063 a0002c0005t0006g0226 a0002c0005t0006g0284 a0002c0005t0006g0285 a0003c0004t0008g0288 a0006c0008t0006g0010 a0013c0018t0006g0291 a0013c0018t0006g0292 a0019c0026t0001g0216 a0022c0023t0001g0218	77	476	0.1618	-1279	c.246 others(17): Show c.246+1778_246+3056del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
ILDR2_chr1_166903187_166980540	166944115	CGGATTAA others(1272): Show CGGATTAAATGATCAGGGTAGAAATATGCATTGTGAATAAAATAACTTAC CTATCTTACCTATAAAATTCCCCATTTCAGTTGTTTTCTGCCACTGCCAC TTTTGAAGTTATCCTCAACTGAACTCTTTGTACACATTCCTGCAAACCAG CTCACTGTTGGAATGTCTCTCATTTATTCATTCATCATTCATTCATTCAA CAAAGAAATTTATATTTAGCTAGGTGGAGACACAGGGGACAAGATGTGTT CCCTTGAGACACTTGAGAGGCTCACAGTCTAGCCCACACAGAACTCAGCT TTAGTTATGTGCTTCTGTGCCACAAGAACTATTAAATCTTCCCGCCAAAT TAGTTTTCATCAGCCCTCTTTGCATTTTTGACATCAGGTTCTGCCTGGTC ATGGGGCCTTTCCCTGGAGACCTAGTCCTTGCCTGGTTTCCCACTTCTAC TCAGAACATTGTCTTTGCACATTTCACAACAAATTATGTCCTAGTGGCAT TTCCCCAAGTTTTTTTACACCTTTTTCTTGGTAGGTTAGCCCCCTCAAAG CAAACTTGATTTACTTTCTTTGCTCAGATAAGCATTTCAGTTGCTTTGTT CAATTCCTTACCACAAAGACCACAAGACTGAGATATGTTCTGACACAGCC CTGTAAGAATGCTGCACTAAGAAGGTGCTTCCTCCTCCATGCTCCCTAGG ACCACTGCACATGCCTTCACTAAAGCAGTTATCTCGTGGCTGCAATGTGC CTTTACTTTTACGAGTGCCTCCACTACCAAGATGGAAACCCCTCCAGAGC AGGGACTATGCTCTACGCTTGGCATCTCCAGAAGCCCAGCGTGAGGAGGC ACCTCACCCACCCATCAGGAACTTGAAGTGTTTCCAATAGCAAATCCCCT TGTTCAATATGCAGGGTTTCTAGCTGGACTTATGATTTGCTGCGCATTAT AGTGACTTTATCAACCTCAGGTGGAAGTAGGCTTTTAATGAAAATATGAA AGAACTATTCATTTATTCATGCAGCATTATTCTATATACTGCACAATGTT TAACACTTCTGAACTCAGGGAAGAATGCCAGGAGCATTCTCCAGTCATTG GAATATCCCCAAATGCCATCTTGCTATCTAAGGAGACAAAAGCACCACCC TATCCCACACCAAAAAGTTGAATAGACCAAACGAATCAGGCATACTAATA CTTTGTACATGCACACACACAAGTGCCAGTTTCATATCATACTGTCACAA ACTCTAGAGCTAAACACATTCACACGCTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0101 a0001c0001t0076g0101	1	342	0.0029	-1279	c.500 others(17): Show c.500-5824_500-4546del	ILDR2	ENSG00000143195.13	transcript	ENST00000271417.8	protein_coding	3/9			chr1	TogoVar
KSR2_chr12_117448012_117973990	117957584	AAGCCCAG others(1272): Show AAGCCCAGGAAATGACCCATTCTCTGGGGGTGGAAAGACTTCCTAGTTTT CTACTCATTGAAAGGTGATGGATTACAAATTGCCTGGTAGAATCCACTCT CAAAACCCAGAGGGAGGAGTGAACCCTTCAGACATAACATTTATCATGAC TTAGAATTGTGAGTTACACACACACACACACACACACACGCACACCTTTA TGAACACAAGGCAAAAGGAAAGGGCCAAGTCCTCACAGGCTGACCACCTT TTTTTTTTTTTTTTTTTAAACTGAGTCTCACTCTGTTGCCCAGGCTGGAG TACAGTGATGCAATCTCAGCTCGCTGCAACCTGCGCCTCCTGGGTTCAAG CGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCC CCCACACCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCA TGTTGGCCAAGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCTGCCT TGGCCCCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCACCCAGCTG AGGTTGACCACTTTGTGCAGAAGACCAAGTATTCCCCATTACCCCAGGTA CCAAGGCCCTACCCAGTTAAAAACAGTAAAGATCTCATTCTGACCTGAGA CAACAGCCTCCTTAACCCTGAGCTCTTAGACATCAAAACACTCACACTCA AAAAATAAAATAAAATATACACCTGTGCTGAGGGTATGGGGAAATGAACC CTTTCCAACACTGCTGGTGAAGGGCAACTTGGCAAAACCCATGGAAAGTC CTAAACTTTTGCATATCCTTTGATCCAGCAGTTCCATTTCTAGGAGCTGA AAATAAGAATTAGCCACAAGGACGTCCACTGTGGCATTGTTATAAAAATG TAAAAGTATGAACATAAGCACCTGACAATAGAATTTTGGTTAAAGAAATG ATGGGGGCCGGGCATGGTGGCTCAGGTCTGTAATCCCAGCAATTTGGGAG GCCTAGGCGGGCAGATCACTTGAGATGAGGAGTTCAAGACCAGCCTGGCC AACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATCAGCTGGGTGC GGTGGAATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGCAAGAA TTGCTTGAACCTGGGAGACAGAGGTTGTAGTGAGCGGAGATCACGCCACT GCGCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAATAAAGTGAG AAATGATGGGGCATCCATGTCATACTATGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0008 a0004c0016t0008	a0004c0016t0008g0099 a0004c0016t0008g0099	1	196	0.0051	-1279	c.180 others(18): Show c.180+9213_180+10491del	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882434	GGGGGGGC others(1272): Show GGGGGGGCAAAAAGCCGCGGCGGGGAAAAAGCCGTGGTGGCAGGGGGCAA ACAGCCGCGGCGCTGGTGGGGCAAAAAGCCGAGACGCGCAAAAAGCTGCG GTGGCGGAGGCAAAAAGCGGTGGGAGCAAAAAACCATATAACGTCGCGGC GGCGGGGGGCAAATAGCCGCGGCGGCGGGGGCAAAAAGGTGCAAAAAGCA GTGGTGGCGCGGGCAAAAAGCCACGGCGGCGGGGGCACAAAGACGCAAAA AGCCGCGGCGGCGGGGGGGGGGGGAGGGGTGGGGGAGGGGCGACAAAAAG CCGCGTCCGCAGGGGGGAAAAATCCGGGGGGGCAGGGGGGCAAAAAGTCG CGGCGGCGGGGGGCAAAAAGCTGTGGCAGCGGGGAGGCAAAAGCCGTGGG GGGCGAAAAGCCGCGGCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAAAG CCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGTCGGCGGGGGGG AAAAAGCCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGGAGGCA AAAAAAGCCGCGGTGGCAGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCC TGGGGGCGGGGGGCAAAAAGCCACGGCCGGCAAAAAACCGCGGCGGCAGG GGGCAAAAAGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGT GGGCAGAAAGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAG CCGCGGCGGGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGG GGGTGCAAAAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGCGGGGGGGG TAAAAGGCCGGGTCGGGCAAAAAGCCACGGCGGCGGGGGTGCAAAAAGCC ACAGCGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGT GGGGGAAAAAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGGCGGGGGGG CAAAAAGCTGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGCAAAAAGCC GTGGTGGCGGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCAAAAAGCCG GGGCGGGCAAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGGGGCGGGCA AAAAGCCGGGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAAAAAGCTGG AGCGGGTAAAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGGGGCGCAAA AAGCCGCGGTGGGCATAAACCCGAGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0043 a0001c0001t0017g0043	1	56	0.0179	-1279	c.84 others(11): Show c.8447_*9725del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4853		chr1	TogoVar
DACT2_chr6_168301904_168324777	168316706	TGTGTGTA others(1271): Show TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTT CCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACG CAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGC ACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCAT GTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAA GCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTC CCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGT CACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGG CAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTG AGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACA GCATCTCGGCAGCACCTCCCTTCCCATCA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	476	0.0021	-1278	c.246 others(17): Show c.246+1404_246+2681del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168316789	GCATCTCG others(1271): Show GCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGT CGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAA CACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTC TGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTC TGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTG TAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGC GATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTC CCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGC AGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCA CCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTG AGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATC TCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGT GCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACAC AACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGG CTGTCGTGTGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTCC CTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTC ACGCAGAAGCTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCGGC AGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGA GCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAG CATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTC GTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAAC ACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCT GTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCT GGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATCACATG TGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAG CTGCGATTGTGTCTGGTGCAAACACACAA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19076.hp2 HG02135.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0241 a0002c0002t0005g0260 a0002c0002t0005g0241 a0002c0002t0005g0260	2	476	0.0042	-1278	c.246 others(17): Show c.246+1321_246+2598del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
CDH4_chr20_61247261_61945617	61943434	CTCTCACC others(1270): Show CTCTCACCGACGACGAGGAGCACTGCGACCCTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACAACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCC TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGCAT TGCGACTGTATGCACCGTGGCCGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02809.hp1 HG02895.hp1 HG01123.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0028 a0001c0006t0049 a0001c0001t0002 a0001c0001t0028 a0001c0006t0049	a0001c0001t0002g0088 a0001c0001t0028g0016 a0001c0006t0049g0071 a0001c0001t0002g0088 a0001c0001t0028g0016 a0001c0006t0049g0071	3	106	0.0283	-1277	c.64 others(11): Show c.6492_*7768del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2818		chr20	TogoVar
NGEF_chr2_232873701_233018256	232962335	AAGACCAG others(1270): Show AAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAA CAACAACAACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCA GCTACTTGGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAGGAGATGGAG GTTGAAGGGGGCCGAGATGGCACCACTGCACTCTAGCCTGGGTAATAGAG TGAGACTCCATCTCAAAAAGAGCTAATAAGCGAATTTATTAAGATCACAG GATACTAGGTGAACATGCAAAAATTAATTTTATTTTTACATACTACCAAA AAATGATTGAAAAATGAAATTAGAAAACATTGGCATTTAAAATAGGATAA AAAAGATGAAATACCTATGAACAAATTTATTTAAAATATGTGTAAAACAT TTACATTAAAAACTACAAATCATTGCTGAATTAATTTAAAGAATATCTAC ATCAATGAAAGATTAGGACATGTTCATAGTTTGAACAATTTAAGTTGCCA ATATTCAGGTGTCAATGATCTCTTAATTTTTTTAAAAAATTGACAAAAAT TGTATATATTGTATACAATATGTTGTTTTGAAATATACATACCTTGTGGA ATGACTAAGTCAAGCTAGTTAACGTATGCATTAAACCTGAAATTTATCTG TAGAGACAATGCAATTTCAACTGAAATTCTAGCTGAATTTTTTTTGGTAG AAATTGACAAACCGATTCCAAAATTTGTACAGAAATGCAAAAGATTTAAA ATAGTCAAGACTATATTTAATAAGAACAAAGTAGGAGGGTTTACACTACC AGATTTTAAGATTAAGCATAAAGCAACAGTATTTAAGACACTATGGTAGT GGCATAAAGATAGAAAATTAGATCAATGAAACAGAATAAAAGTTCAGAAA TAGACCCACATGTCTACGGTCATTGGACTTTTGAAAAAAGTACCAATGCA GCTCTTTGATGGAACAGAAAACTTTCTCAATAAACAGTGCAAGAGCAACT AGAGATCTATATGGACCATAGACCCAAATGTGAAAATGAAGAGTCTAAAA CTTCTATAAGAAAACGTAGCAGAGTATCTTCATGACTTCAAAGTGGTCTA CTATTTCTTAGGATATAAAAGGACAAACAATAAAAAAATTTCTAACTTAG TCTTCATCAAAATTAAAAATTTCTGCTCATTAAAAGACAAGAAACTTGGC TGGGCACAGTGGCTCATGTCTGTAATCCCAGCCCTTTGGGAGGCCGAGGC AGGCAGATCACCTGAGGTCAGGAGTTCG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0024	a0001c0004t0024g0010 a0001c0004t0024g0010	1	362	0.0028	-1277	c.383 others(17): Show c.383+6602_383+7878del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
PTPRA_chr20_2868481_3043669	2924255	AGCTGAGT others(1270): Show AGCTGAGTGTGGTGGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTAA GACAGGAGAATGGCTTGAAGCCAGGAGGCAGAAGTTGCAGTGAGGTGAGA TCACGCCCCTGCACTCCATCCAATCTGGGCAACAGGGCGAGACTATGTAT CAACAACAACAAAAAATTGACATACACTATTGATAACATGGAATTTTATT CAGTAATAGAAAGGAACAAACTACCAGTAGACATGACAACATGGATGAAT CTCGTAGATAAAAGGTTGAGTGAAAGAAACCAGATGGACAAGAAAAAGTA GATGTAGCAGAATTACCGAGTAAAACTAAACTACAGTGATAAAGGTCATA TCCCTACTTCCTCTGACAGGAGGTGGGAGGTTGTGACTGGAAAGAGGTAT GAGAGAGCCTCTGCAGCACCGAAAAGGTGTTTTGTTTTGTTTTTTGAGAC TGAGTCTTGCTATGTCACCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTC ACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCC CAAGTAGCTGGGATTACAGACACGCGCCACCACGCCCAGCTAATTTTTGT ATTTTTAATAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTCGATT GCCCAACCTCATGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTAC AGGCATGAGCCACCGCGCCCGGCCTGAAAAGGTTTTACATCTTAATGTGT TCATATACATACTTTTCTCATGGTAAAATATATATAAGATTAAATTTATC ATTTTAACTACTTTTAAAGTATACAATTCATTGGCATTAAGTACATTCCT GTTGTGCAGCCATCACCACTGTCCATCTCCAAAACTTTTTCATCTCCCCA AACTGAAACTCCATATCCATTAAACACTAACTCCCCATTTCCTCCTCCCC CAGCTGCTGGCAACCATTCTACCTTCTGTCTCTATGAATTTGACTATAAT AGTTACCTCGTATAAGTGGAATCATATTTGTCATTTGACATCTGGTTTGT TTCACATAGGTTTATTTCACAAAGGTATCTTGTTTATTTCACATAGGATG ACCTTGTTTTCAAGTCATCCATGTTGTAGCATATATCAGAATTTACATTT TATGGTTGAATAATATTCTGTTGTATGTTTATACCACTTTATGTGTATCC ATTCATTCACTGATGGACACTTGGGCTGCTTCCACCTTTTGGCTGTTGTG ACTAATGGTGCTATGAACATGGGTGTAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0193 a0001c0004t0002g0193	1	356	0.0028	-1277	c.-50 others(17): Show c.-50+1005_-50+2281del	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63964836	TTCCCCGA others(1270): Show TTCCCCGACCTGGGACAAGCCCCCATACCTTTTCTTACCACTGTTCCCTG ACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGG ACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCC CCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGCCCCCATAC CTTTTCTCACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTT TCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACC ACTGTTCCCTGACCTGGAACGAGCCCCCATACCTTTTCTCACCACTGTTC CCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACC TGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACG AGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCC ATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTT TTCTCACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTCAC CACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTT CCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCC GACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCAACC TGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTGGG ACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGCC CCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCA TACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACC TTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTT CTTACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCA CTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCC CTGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGA CCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGA CGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCTGACCTGGGACGAG CCCCCATACCTTTTCTTACCACTGTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp1 others(79): Show HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02109.hp2 HG02129.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18943.hp2 NA18950.hp2 NA18971.hp1 NA19005.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0003 a0002c0004 others(5): Show a0001c0002 a0001c0003 a0002c0004 a0003c0008 a0003c0011 a0004c0012 a0005c0010 a0006c0013	a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 others(10): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0019 a0001c0002t0020 a0001c0003t0001 a0001c0003t0003 a0002c0004t0002 a0003c0008t0004 a0003c0011t0004 a0004c0012t0002 a0005c0010t0002 a0006c0013t0002	a0001c0002t0002g0058 a0001c0002t0003g0003 a0001c0002t0003g0011 others(32): Show a0001c0002t0002g0058 a0001c0002t0003g0003 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0061 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0013g0050 a0001c0002t0013g0059 a0001c0002t0019g0060 a0001c0002t0020g0163 a0001c0003t0001g0134 a0001c0003t0003g0062 a0002c0004t0002g0004 a0002c0004t0002g0044 a0002c0004t0002g0153 a0002c0004t0002g0168 a0003c0008t0004g0024 a0003c0011t0004g0157 a0003c0011t0004g0158 a0004c0012t0002g0147 a0004c0012t0002g0159 a0005c0010t0002g0155 a0005c0010t0002g0156 a0006c0013t0002g0152	82	356	0.2303	-1277	c.103 others(16): Show c.1034+28_1035-121del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76393453	AGGTGGTC others(1270): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0195 a0002c0053t0195	a0002c0053t0195g0006 a0002c0053t0195g0006	1	346	0.0029	-1277	c.181 others(21): Show c.1811-14427_1811-13151del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393476	GGGTGGTC others(1270): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCA GGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0165 a0001c0002t0165	a0001c0002t0165g0048 a0001c0002t0165g0048	1	346	0.0029	-1277	c.181 others(21): Show c.1811-14450_1811-13174del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1235521	TCTGCCTC others(1269): Show TCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTG GTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGA GCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTT AACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACAC ACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAG TGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAA AGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTG GGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGAC CCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCC TGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCT CTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTC GGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACT CCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCT CTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAG CTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGA ACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0023 a0001c0001t0023g0023	1	106	0.0094	-1276	c.136 others(19): Show c.1362-2952_1362-1677del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
BICD1_chr12_32101847_32388633	32233098	TATCACTT others(1269): Show TATCACTTGAGGTCAAGAATTCGAGACCAGCCTGGCCAATATGGTGAAAC CCCATCGCTACTAAAAATACAAAAGTTATGTTGGCATGGTGGCGGGCACA TGTAACCCCGGCTACTCTGGAGGCTGAGACAAGAGAATCGCTTGAACCCA GGAGGAGGAGGTTGCAGTAAGCTGAGATTGTGCCATTGCACTCCAGCCTG GATGACAGAGCAAGAGTCTGTCTTTAAAAAAAAAAAAAAAAAAGTAGGCT TACACATATTCCCTTTACTGTTTTTCAAGGTCATTACATTTTTATCTGTT ATTGTTCACCATTTAAAAATAAGCAGTGGAAAGCAGCCTACTTTTTAAAA TGCGGAACTCGTATGGTGTACTTAGCATATATATAAGGATTTCTGTCCTC TCTCTTGCCTCCCTCCCTCCCGTTCTTCCCCCTTCCTCCTCCTTCCTTCC TTCCTTCCCTCCCTCCCTCCCCTTTCCTATCTTCTGAGTAGGGTCAAACA CCAGTTCTCTACTTCTCGGACCATAAGAATAAAGATCTGTGCACAATCCA TTTTGTACATATTGATTCTTGGACTAAAAATAGCTCAATTTGGTTTCAAA CTTTTTCTCCCACCCTAAGTTCAGGTTTTGTTCCTTGTGCAGCCTGGTAG GCGGGCAAGTAATGCATAGTCAGCATTCCATCTGGGATGCTTACTGGACA ATTTTAATCTTTTTTTTACGTCTTGACCTCTATTTCCAAAGAGCATCCCA GTTGGCAGGTCTAGCCTGATTAAGATTCTGTTCAGGCATTTAATTCTCCT AAGGGAATTTACAGATTAATCTAAAAATCAAGGATACCAGAATCTACTCA GGACTTAACTTCTTGAAGGTTATAGGAAACATATACTTGAGCAACCTAAT GAATGAGCTTAGTGATATCGTAATGAATTTTTATATATACCTCAAATTAC ACTTTTTAATGCATATCCAACAAAAATATTTTTAAAAACAAATACTGTAG ACCTAACTGGATTAGCTGTATTAGTAGATCCAAATTTAACTTTCAATTTG AATTAAGTTAGAACACTATGGATCTCATAAGGCAGGCTATATATTGATTA CCTAGTTAGCCAGCTTCCATATCACCACTTGTTCAGGAACATTAAAAGTA CTTTTTTAGAAATAGTTTTCTGATATATTTTTGGTTTCACTAAGACAGCT TTTTAAAAAGCAAAATTAGGCAGGGCGTGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCAG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	290	0.0035	-1276	c.426 others(19): Show c.426+16645_426+17920del	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
DACT2_chr6_168301904_168324777	168316488	CGTGTGTA others(1269): Show CGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTT CCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACG CAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGC ACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCAT CTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTG TGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACA CAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTG GCTGTCGTGTGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTC CCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGT CACGCAGAAGCTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCGG CAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTG AGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACA GCATCTCGGCAGCACCTCCCTTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01934.hp1 HG02071.hp2 others(6): Show HG00280.hp2 HG01934.hp1 HG02071.hp2 HG02083.hp1 NA18951.hp1 NA18977.hp2 NA18979.hp1 NA18998.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0001c0001t0001 a0002c0003t0006	a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0310 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0310 a0002c0003t0006g0309	9	476	0.0189	-1276	c.246 others(17): Show c.246+1624_246+2899del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
PFKP_chr10_3062548_3141802	3072480	CAGTGTAA others(1269): Show CAGTGTAAAGTGCAGTAATTAATTTTGCAAAAATTACTGGGTCTGGGAGG CAGTGTGTTGGAATGATGGTGTCACCATGTGGCACAGTGGGAGATTTGTG TAATGGCATCATTTTCTGTGAATGCAGACCGTTTTGTGTGCCATACTCGA ATGACCCTTCGAAGCTAGACATTTTGTCATCTTTCGAAAGAAGCATGTTT TCCCCCTTGGTTACAGAAAGCTAAAAGCTTTTGATACAGGACTCCAACCT TTTATCAGGGAGAATTAGGCTCTTTAAATAATTAGGGCTCTACCAATCTG ATGGGCCATCAGAAGCAATTAAAATTAGAAAGGTGAAGATACGGTAACGT AGTCAGGACAAACATCAGGATACCAGATTGCACGTTCACAATGGCATTTC GGCTAAGAAAGTGCGGGTGAATATAGAACAGAGGGCCGTATGTCAGTAAT TGGGTTCCGTTTTGTGTTTCTTTTCCACAAGCCCTTTCTGGTGTTGTGTT TTTGTTTATTAGAGAGTAGCTGCCCAAAGGCTACAGTTTCCCTCCCCACT CCTCGGTTCTCTCCGTCTTCACCCCCAACTCCCAGTCCTGTGTTTGGAAT TACAGTCATTGTGCTTGTCAGGATGTAAGAGGCAGCCAGACACATGGCAG ACCAGAGCACTGAGAGGCAGAGACATTTATAGGTCCTAGCCCTGGTCCTG CTGTCTGGGTCAGCAGGGTGCTGAGTGCTGAGTGCTGAGATAGGGTCTTG ATGTTTTCCTCTGCAGAATGGAGGCATCACTCAGTCTCTGTCTCCTCTCC CTGTCTCTGTCTTCCCTCCCCTCTTCCCTAACACATATCCACAGTGAAAG TGTTCAGGAGGAAAAGAGAATAGGCTGGACTGTGCTGGGACCCCCAACCC CAGGGCCCGTGTGCTATTTTCCCAGCCTCCGTGTGCCCAGAGATGCCTAG GGGAGCCTGCGGAGGTGTAGATCCTGACTGTGTGGGTCTGAGTGAGGCTC CGACTCTCACGGGGAGGGCACCGGTGCTGCTGGACCCCCTGGGGCCAGTG GAGCGGTTTGCAAATCGGGCAGATCAGCTTCTCCACTTCTCCAGGTTTCC CCAATGTGAGATGCTCCCAGGAGTCCCATGGGATTGTTTTCTGACTTTGA CCAGGATTTTGACAGAGAAGATTCATTAATATAGGACCCCTTGTCTAAAC GTACATATGTAAATGATCTGATCCGAAGTTTCCTGAATGGAAAATGATTG AAAGGGTGGCATGCAGTAGCCTCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03704.hp2 NA20805.hp2 HG01081.hp2 HG03704.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0016 a0001c0002 a0001c0011 a0001c0016	a0001c0002t0002 a0001c0011t0003 a0001c0016t0007 a0001c0002t0002 a0001c0011t0003 a0001c0016t0007	a0001c0002t0002g0059 a0001c0011t0003g0058 a0001c0016t0007g0057 a0001c0002t0002g0059 a0001c0011t0003g0058 a0001c0016t0007g0057	3	402	0.0075	-1276	c.112 others(17): Show c.112+4777_112+6052del	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLA2G4C_chr19_48042846_48115817	48077271	TCAGTAGC others(1269): Show TCAGTAGCACTGCTATACACCAACAATGACCAAGCTGAGATTCAAATCAA GAACTCAACCCCTTTTACAACAGCTGCAAAAAAATAAAATAAAGTACTCA GGAATATACCTAACCAAGGAGGTGAAAGACTGCTACAAGGAAAACTACAA AACACTGCTGAAAGAAATCATAGATGACACAAACAAATGGAAACACATCC CATGCTCATGGATGGGTAGAATCAATATTGTGAAAATGACCATACTGCCA AAAGCAATCTACAAGTCCAGTGTAATTCCTATCAAAATACTATCATTTTT CACAGAGTGTCAGTTTGAACTCCGATCCTGCCCCTCCTGGCTGCGTGGCC TCAGGCACCTGGGAGAGTCCATGCTCCTCTCCATTCCCAAAGGAGCACCA CATGAATCAGACACGTAAAGTTTTTAGGACAATGGCTGGCTTCAAGCCAG TGTGCAGTCCACACTATCATTAGGGATTCATGGCAAAGTAGGATGCTTAC CTTCTGGGGGAGGATGTTCCCCTTGTGAACTTTCTTGCAGCCTCAGTAAT CGGGCTGCAAAAGAGCAGAGGCAGGGGGAATGTTTAACTGTAAAGTCACT AGTTATAGAAAATACAGATTACCTGCAGCGACGTCTCTTTAATAGAAATG GCAGCCATGGGTTGGAGTCTGTTGATACGGGTTCTGGAGAGCTAATTTTG TACCCGTCTTCCAACTCTGTGCTCGCTGACCTCATGTTGGTAGCTTGAAA TTTGCCATGATGTGATCAAGTGGGTTTCATACTAGGAATGCAGGGATGGC TTAACATATGCAAGTCAACAAATGTGATATATCACAGAAACAGAATTAAA AACAAAAATCATAGGAGATGCAGAAGCATTTCACAAAATCCCACATCCCT TTATGATTAAAGCCCTCAACAAAATCGGTATACAAGAGACATACTTCAAT GTAATAAAAGCCATCTATGACAAACCCACAGCCAACATTACACTGAACAG GGAAAAGTTTAAAGCATTCCCCCTGAGAACTGCAATAAGACAAGAATGCC CACTCTTATCACTTGTATTCAACATAGTACTGGAAGTCCTAGCCACAGCC ATCAGACAAGAGAAAGAAATGAAGGGTATCCAAACCAGTAAAGAGGAAGT CAAACTGTTAGTGTTCACTGATGATATGATTGTACACCTAGAAAACCCTA AAGACTCATCCAAAAAGCTCCTAGGTCTGATGAATGAATTCAGTAGAGTT TCAGGATACAAAATCAATGTACACAAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01070.hp1 HG01070.hp1	a0030 a0030	a0030c0068 a0030c0068	a0030c0068t0001 a0030c0068t0001	a0030c0068t0001g0079 a0030c0068t0001g0079	1	322	0.0031	-1276	c.845 others(15): Show c.845-723_898+499del	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	11/17			chr19	TogoVar
UBXN7_chr3_196342662_196437427	196426720	TGCCTGTA others(1269): Show TGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAA CCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTACCTTTGCACTCCAG CCTGGGCCACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAACATGA ATGGAAATTGGCCATAAAGTTAAATACCACAAACATGACAGCCCCTAATT TTTATAATAAATATGCACTCATCAACCATCTGAAAGATTAAGGTCTCTTC TACAACTGAGGTTCTATAATTTTCTCAAGTATGTTATTGCCGCTATGCAC AAAGCTCTATGAATTTCCGTACCAGTAACCTCTTGTACTCTTCTTAGCCT CCACTTTCTATGCCCTCACATTTGTCCTTAGACTGCTAGCTTATTTTTCA CCTGTTCTATAGTGTCTATGTATCCCTCACCTTCACTCCATGAATTATTC TGATTACACATGTGCACCAGTGTATATGTGTAGTGGATGTCAGCCCAAAG TTGGTGCTAATGGAATACTGCCATGGCTCAAAACATTTTTACTTTTATTT ACTTTTTCTTTTTTTGAGACAGGGTCTCGCTCTGTGCTCGCTTCAGCAGC ACATATACTAAAATTGGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCTGGATCTCGGCTCACTGCAACCTCCGTCTCCTGGGTTCACG AGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGACTACAGGCGTGCACC ACCATGCTCAGCTAATTTTTGTATTTTTCGGAGAGACAGGGTTTCACCAG GTTGGCCAGACTGGTCTGAAGCTCCTGACCTCCGGTGATCCACCCGCCTT GGCCTCCCAAAGTGCCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTT CAAAACATTTTTAAAAATTGCTCTTTCAGAATAGATCCAGCTGCATATTT TTCCTTCATGTTTTGAGAATTGATATGACTTCTGAGTTTTCAACAGTAAT TCAAAGCCATGTATGATAAATATCAGAGGAGATCAAACAGTAGTATTGTA AAATGTGGAATGACTATAAAAGTAACAAGACTGGTTTTCTTATGTAGCTT TAAATGACACAGAAAGCATCAGTGGGGCCGGTTGCAGTGGCTCACGCCCA TAATACCAGCACTTTGGGAGGCTGAGGAGGGCAGATCACTTGAGGTCAGT TTGAGACCAGCTTGCCCAACATGGTGAAACTCCATCTCTACTAAAAATAC AAAAATCAGACGGGCATGGTGGCTTGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0217 a0001c0001t0044g0217	1	274	0.0037	-1276	c.73+ others(15): Show c.73+4331_73+5606del	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	1/10			chr3	TogoVar
AFP_chr4_73431221_73461174	73447055	CGGACACT others(1268): Show CGGACACTATTAGAGGAGGGATTTGTGTAGCACTTAGGACATTATACTTG ATAATTTCCAAGGGTCTTTCTAGATTTAAAAGTCTGATTCTAACGTAGTA ATAAAAATAAAGGCCCAATTTTCTCTTTAATATTGGCTGAAGATATTACT CTATTATTGCATTAAAATTAAACATTCACACATTGTTTGCACTGCTAAAT AAAATTATGTAATTTCTTCTTCTTTCCTTCCTCCTTCCTCCATCCCTCTC TATTTCCCTTTCCCCTTCCTTCTTTCCTGGCCTTTTTTCCTTCTTTCTTT GTTCCCTTCTCCCTCCCTCCCCTTTCTTCCTTTTTCTAAAGCTGGCTTTG AGATCCTTTATTAAAGAATAAATCTTTAAAACTTATACTTTATTTTCTCT GTTGCAGGAAAAAATCATGTCCTACATATGTTCTCAACAAGACACTCTGT CAAACAAAATAACAGAATGCTGCAAACTGACCACGCTGGAACGTGGTCAA TGTATAATTCATGCAGAAAATGATGAAAAACCTGAAGGTCTATCTCCAAA TCTAAACAGGTTTTTAGGAGATAGAGATTTTAACCAATTTTCTTCAGGGG AAAAAAATATCTTCTTGGCAAGGTAACACACTCTGTAAATGCATGTTCAT GCAAGTAAAAATGATTATGTGGCTGACAGATTTGCGTTGTTGAAATGGAG AGTGATGATTATGGTTTTTGAGTTCAATATGTGAGGATATTTGGCTAGAA TGTTCTGAGCCAAAATAGATTTCAGTAGATAACCAGGGAATAAGTAATGG GATTTGGTGTTTAACGGTGAAGCGTTCACCACTGTGACTCATTAACTGCT TTGCTTATGAAGCTGAATTTTATTTCACATCAATTTCTCTGGAATCAGAA GCATTGTCATCCTGTAAAGATTACTCATATCAAGGCCACCATTGAACTCT CAAATAGGATATGGATATTTTTGTAATAAGAAGAGTTCATGATTAAGAAT GAACTCTTGCTACGCATGTTAAAAAAAAAACTTTTCTCCAAAAGATAACA CAAGAGATAATGCTAGGTAGAAGAACTTTTATAGGAACAGCTTATTGGCT ATGTATTAAATACATGTTTTGTATTTTTTAAGAAAATCAAAACATGTTTA GAGACATTTGCAGTACAGTAGTTTGTTTTAATACAACTGATAGGTCACGT TCTCACTCTATTTGCCTTTAAGGGAAGAAAGCAATCAAGTTAATACGTTT TCCTTCATTGTATAGTATGTAACTAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp1 NA18955.hp2 HG00642.hp1 NA18955.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0078 a0005c0008t0002g0086 a0005c0008t0002g0078 a0005c0008t0002g0086	2	390	0.0051	-1275	c.844 others(16): Show c.844-272_1058+788del	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BRSK2_chr11_1384934_1467689	1430284	TCAGCAGT others(1268): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18982.hp2 HG02080.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0320 a0002c0002t0005g0274 a0002c0002t0002g0320 a0002c0002t0005g0274	2	360	0.0056	-1275	c.92- others(15): Show c.92-5615_92-4341del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CGAS_chr6_73418711_73457297	73429583	TTGGGAGG others(1268): Show TTGGGAGGCCAAGGTGGGCGGATCACAAGGTCGGGAGATCAAGACCATCC TGGCTAACACAGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGCGAACCCGGGAGGTGGAGCTTGCAGTGAGCGGAGATCGC GCCACTGCACTCCAGCCTGGGCAACAGCACAAGACTCTGTCTCAAAAAAA AAAAATTTCTCCCCGAGTCTTACCATGGCTAGCTCTTTTATGCTCTGACC ACCCTGTTACTTCGTGGTTTTATACTAGCAAAGTATAAGTAGTTTATAAT CTGAATGATTTTTCAGAAAAATCAATCAATATAATCTGTCACATTAACAG AATAGAGGAGAAATACATGATTGTCTCAATAGATGAAGAAAATGAAGCTC TTAAAATCCTATAGTCGTTCATCATTAAAAAAACACCTCTTAGCAATCTA AGTCTAGATGGACACTTGATTCCATAAAAGGTAGATTTTAGAAAACTATA GCAACAATCATTATGTGAGGTAAAAAGTTGGAGAGAGAAATCAGAAAGAA GGCAAAACATCTGCTATCTCTATTTCTGTTCAACATGCACTGGGTGTCAT AGCAAGCACAGTAAGGGAAGGAAAAACAGGGTTACACACTGGAAAGGGAG AAACAAAGCCATCATTATTCATAGGTGATGTAATTGCATATATAGGAAAT ACAAAAGAATCTACAATGCTGGGCATGGTGGTTCACGCCTGTAATCCCAG CACTTCAGGAGGCCGAGACAGGAGACCAGCCTGGCCAACATGGTGAAACA CCATATCTACTAAAAATAGAAAGATTAGCTTAGCCAGTGTGGTGGCGTGT GCCTACACATACCACATGTATGTATGTATTTGTATATAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCGGAATGCCGAGGTTGCA GTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGACAACAGAGCGAGGC TCCATCTCAAAAAAGAAAGAAAATGAAAAAAGAAAAAAAAAATTATGTAA ATAAACTCACCAAATCAATTAAAAGAGTTACCAAGATTGTGGATACAAAA ATCAAAGGTATTTTGATATATGGTAATAAACAAAAAATGAAATTTTGAGA AAGATGTTACTTACAATAGTATAAAAACTAGCAATTAGGCCAGGTGCAGT GGCTCATGCCTGTAATCCCAGCACCG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG01123.hp2 HG01346.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0283 a0001c0006t0003g0308 a0001c0006t0003g0283 a0001c0006t0003g0308	2	410	0.0049	-1275	c.111 others(18): Show c.1115-2047_1115-773del	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	3/4			chr6	TogoVar
DYNC2I2_chr9_128628653_128661847	128652451	AGAAAGAA others(1268): Show AGAAAGAAAGAAAGTACCAAGAGTTGGCCAGGTGCTGTGGTACACACCTG TACTCCTAGGTACTCAGGAGGCTGACGGAGGAAAATCGCTTGAACCCGGG AGGTGTAGGTTGCAGTGACCCAAGATTGTGCCATTGCACTCTAGCCTGGG CAACAAGAATGAAATTCCGTCTCAAAAAAAAAAAAGAGGCCGGGCACAGT GGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAAGTGGATCA CCTGAGGTCGGGAGTTCGAAACCAGCCTGACCAACATGGAGAAACTCCCT CACTACTAAAAATACTAAATTAGCCAGGCATGGTGGCACATGCCTGTAAT TCCAGCTACTCAGGAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCG GAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCTTGGGCAACA AAAGCGAAACTCCGTCTCAAAAAAAAAAAAGTAAGTACCAAGAGTGCCAG GCACGGTGGCTCACACCTGTAATCCCCAAGCAGTTTGGGAGGCTGAGGCG GGTGGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTG AAACCCTGTCTCTACTAAAAACACAAAAATTAGCCCAATGTGGTGGCGTG CACCTGTTATCCCAGCTACTCAGGAAGCTGAGGCAGGAGGATCACCTGAA ACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTTCAG CCTGGGCAACAAAGCGAGACTCCGTCTCACACACAAAAAAGAAAGTACCA AGAGTAGCCCAGGTGAGGTGGCTCAGGCTTGTAATATCTATACCTTGGGA GGCCGAGGCAGGCAGATGACTTGAGGCCAGGAGTTTGAGACCAGCCTGGC CAACATGGTGAAAGGTCGGGAGTTCAAAACCAACCTGGCCAATATGGCGA AACCCCGTCACTACTAAAAATAAAAAAAACTGGGCCGGACACGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGTGGCCGAGGCAGGCGGATCACGAGG TCAGGAGATAAAGACTATCCTGGCTAACACAGAGAAACCCCACCTCTACT AAAAAAAAAAAAAAAATTAGCCAGGCGTGCTGGCATGCACCTGTAGTCCC AGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAAGCCGGGAGGCGGA AGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGGCCACAGA GCGAGACTCTGTCTCCAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02965.hp1 NA18906.hp2 HG01496.hp1 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0282 a0001c0005t0001g0284 a0001c0005t0001g0285 a0001c0003t0001g0282 a0001c0005t0001g0284 a0001c0005t0001g0285	3	368	0.0082	-1275	c.186 others(17): Show c.186+2815_186+4089del	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
HELZ2_chr20_63553086_63579239	63574969	GGGAGGCT others(1268): Show GGGAGGCTGAGGCAGAAGCATTGCTTGAACCAAGGAAGTGGAGGTTGCAG TGCGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACT CCATCTCAAAACAAATAAATAAATAAAATAAACATCTGTGTTGTTTTAAG CCCCTGAGCTTTGGGGCGATCTGTTCTGCAGCAGTAGATAACGGACAGTG ATGCTGCCCCTGAAACAAGGAAGCAAGGCTGCCACCCAAGGCCAGCACCT CGTGGGGAGGGCCAGGCTGGGGGCTCACAGCGACCTCGGGAGGTCGGCTG GGTGGGCCGTCAACCACCAGGGAGCCTCTCCGCAGACCAATCACGTTGGA GCTCCTGGGAGAGGGCAGGCCCTCGACAATAGCAGCCCCAGGGGCCGGGC GCTGAGCAGGGTCCATGTGCGTGGAACGCTGGGAGAATTTGTGTGGAACG CTGTGTTCCTGGATGGAGAGGCTCAACACCACACAAAGACGTGAGTTCCT CCTAAACTAACCTGCAGTCGCATGGTGGACACACTGACTTTCAAGTCCAT TTGGAAAAGCATCACATCACCAAGAAAGGCTGGACAGGGCTTTTTTTTTT TTTGAGACTGAGTCTCCTTCCATTGCCCCGGCGGGAGTGCAGTGATGCAA TCACAGTTCACTGCAGCCTCGACCTCTGGCTCAGACAGTCTTCCCCCCTC AGCCTCCTGAGTCGCTGGGACTACAGGCACACACCACCACAGTACAGGTG CACACCACCACAGTTAACTATTTTGGAGTTTTTTCTATGTTTTTCAGAGA TGGGGTTTCTCAATGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGC AAACCCCCCACCTCGGCCTCCTTGAGTGCCGGGATTAGATTACAGGCTTG AATCCCAACACCCAGCCCAGGATGATGACTAAAAAGGATTCCCAGCGGGT GCTGGCATGACTTACTAAACACATAACACACTGCAAAGCCACTGAACCCG GTGTGGACACACAGTTCCAAGGCAGAACAGAGAGTCCAGAAATAGAGTCA CACTCAGGAGTCTGGGGTGGGATGAAAGATTGGCTCTCGGCCAGGCGCAC TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATC ACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCA TCTCTTCTAAAAATACAAAAAAAAAAAAAAAAAATAGCTGGGCGTGGTGG CAGGTGCCTGTAGTCCCAGCTACTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	390	0.0026	-1275	c.-28 others(11): Show c.-2897_-1623del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding		731		chr20	TogoVar
DACT2_chr6_168301904_168324777	168316375	ATGTGTGT others(1267): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACC TCCCTTCCCATCACGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCAT CTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTG TGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACA CAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTG GCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCAT GTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAA GCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTC CCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGT CACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGG CAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTG AGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACA GCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGT CGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAA CACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTC TGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTC TGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTG TAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCATC TCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGT GCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGGTGCAAACACAC AACAGCATCTCGGCAGCACCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0004 a0002c0015t0004	a0002c0015t0004g0097 a0002c0015t0004g0097	1	476	0.0021	-1274	c.246 others(17): Show c.246+1739_246+3012del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168316487	ACGTGTGT others(1267): Show ACGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCAC GCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAG CACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGC TGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCA TCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGT GTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACAC ACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGT GGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 NA19086.hp1 HG02717.hp2 HG03130.hp2 NA19086.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0011c0016 a0002c0003 a0011c0016	a0002c0003t0009 a0011c0016t0001 a0002c0003t0009 a0011c0016t0001	a0002c0003t0009g0066 a0011c0016t0001g0274 a0002c0003t0009g0066 a0011c0016t0001g0274	3	476	0.0063	-1274	c.246 others(17): Show c.246+1627_246+2900del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DGKE_chr17_56829151_56874567	56872567	AAGATGAA others(1267): Show AAGATGAACGATCCACAAGTTGATTAGGGCCTTTGGGAGATAATCAGGAT TAAATAAGGTGGTCAGGGTGGGCCTCCCATTATCAGGCTGGTGAAAGGAG CCATGACCTTCAAACTGATACTAAATCTTGACCATGATTTAGGTAATGGC AATGGACTCTGGACCAATAAAGCCCTCAGACAACTGGACGGAGGGGGAGA TCAGACAAATAAGAACCTATTATTTCTAAATAAGTGAGACATTATGTAAA TGGGAACATATAAACAGAGCCGTATGGTCTGGAGTCAAGTAACATACATA TTAGCAGGGCATGTGATCATTTATAAAACAATTTTATATAAAGTATTCCC CATAGAAACCCAATGGAGGAGGCAGAGTAGATATAATTTTTCTAAATGAG TACATTGCGATTCAGAAAGGCTGATGACATGCCAGGGTTGCACGGAGCTG GGATACTGATCCAGTCTTGTGACTCCAAAATTTAGTGGAGTTTGTTGTTC ATTTTTTTCCCCCACTAAGTTATGCCACCTTTTTCCTAGGTCAGGGGTTC CTAGCCTTTATTATATCATAAGCCAGCCTCTATAAGAAGTTGGCTATAGC TACAGACACTTCCTCCCTCCCTCTGACCCTAGCAGTTTGGCGCATACAGC AGAATTTTGCAGCCAACTTGGAGGGCCTCCGAGACTCCAATTAAGAACCT CTGAACCAAAGATACCAGTCCTAGCTGAGGTATCTCAGACATATTTAGTA TAAACTGGCAATGAGCTTGTTCTGTCTGGTTATCTTCTGTCTGTGGCCAT TTTCTATTCTGATTCATCCACAAGCCCACAGAGAAGTCAGTAACACACAG GTTCAGAAAAGCCAGTGGTGGAGAAATGTTTCCGGGAGAAAAAACAGTGG CACTAGGGTTGCGCCTCTAGGGAGGTGCCATTCGACATGTTCTGGGAACA ACATGCTGGACAAGCTGGCAAGAAGAAAAGACTGATGCGTGGCCAGGCGC GGTTGCTCATGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGAGTGGA TCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCC CGTCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGTGCC TGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATTGCTTGAACTCG GGAGGAGGAGGTTTCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTG GGCAACAAGAGCAAAACTCCATCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	324	0.0031	-1274	c.97 others(12): Show c.9777_*11050del	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		3001		chr17	TogoVar
DTYMK_chr2_241670747_241691815	241687703	ATTTTTAG others(1267): Show ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATC TGACCTCGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCTGGCCGAAAAGTCCGTTTTAAAAGATGATGTATA CAAATTATAGCACGGAGAGGGAACGGGCAAGTTGTTTCCTCTTTCCATGC CTCCAACTCCTCTGAAATGTGGGTCATGATGATAATAGGAAAAACTGTCT CTGCCATAGAGAGGTGGAAAAAGTCCCGCGAAGTGTCCCCGGTATCTAGA AAGCGCTCAGTAGTGTTTGCTGTTATCTTAGGGATATCAGGCTGCCTGGA CATTTCTCAGGTGAGACTTTTTGTTATTTTAGATATCTAAAATACTACTA TCTATATGTGCCATATTGTCAGTTGTCAGCTAGACATCACTTTCTCTGCT TAGCAGAAGAAATGGTAGGAACTGCATTTCCCAGAATCATCTGTGTAGCC CTGGATTACAGTCTACCAGACGAGGCACTCTTACCTTTCGAGGCGATTAT TCTTGGGAGGCACCCTCAGCCAGAAATATAGATGAAATTCAAAGCTGTTC TGTTTTCAGAACCACCTGCCTCTGATGTAGACCAAGAAATTGCTGGTAGC TTTCTAAGTGTTGAGTTTGCATTGGTTTTTTCCCCATGAGCTCTTGAGAC CACCACCCACTTCAGTGCTTTGGGCTGAGGTCATTGGCAACAATTTCCCG GACTTTACTCCCAGCATTTGTGTAAGCTCGCGATTATATTATCATTGCAT ACCTAGAGTAGCTTTATGTTTTCCAGACTGAAGCCTCCCCAATTCAGTTT GGGGTTCTGGAAGGATATGGGTTATATTGTTATTACCAGTTATGCCCTTT CTTCCTTTTTAATTTACTTTTATTGCTTTTATTTTATTTGAGACGGAGTC CTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGC ACCCTCCACCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGATTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTT TATTTTATTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAAGCTCCACCTCCCGAGTTCATCCC ATTCTCCTGCCTCAGCCTCCCCACTAGCTGGGACTACAGGTGCCCACCAT CATGCCCGGCTAATTTTTTTTGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	420	0.0024	-1274	c.-21 others(10): Show c.-2194_-921del	DTYMK	ENSG00000168393.13	transcript	ENST00000305784.7	protein_coding		889		chr2	TogoVar
FAIM2_chr12_49861896_49908900	49878079	TGTGCATG others(1267): Show TGTGCATGTGAGTGCATGTGTGTGCATGTGTGTATGTGGGTATGTGTGCA TGTGAGTGTGCATGTGAGTGTGTGTATGAGTGTATGTGTGTATGTGCATG TGTATATGTGTGTGCATATGTGTATGTATGTGCTTGTGTGTATATGTGCA TGAGTGTATGTGTGTATATGTGAGTGTATGTGCATGTGTGTGTCCATGTG TCTATATGTGAGTGTATGGGTGTATGTGCATGCGTGTATATGTGTATTTG TGTGCATGTGAGTGTATGTGTGTGCATGTGTGTATATGTGGGCATGTGCA TGTGTGTATATGTGTGTGTCTGTGTGCATGTGAGTGTATGTGTGTGTATA TGTGCAAGTGTGTGTCTGAGTGAATGTGTATGCATGTATGTGTGTGTGCA TGTGTGTATATGTATGTGCATGTGTGTATATGTGTGCATATGACTGTGTA TGTGCATGTGTATATGTGCGTGCATGTGTGAGTGTATATGTTCATGTGTA TATGTACATGTGTATGTGTATGTGTGCATGTGTATGTGTGCATATGTGTA TGTATGTGCCCTTGTATATATGTGCGCTTGTATGTGCATGTGTGTATGTG TGTATATGTGAGTGTATGTGCATGTGTGCATATATGCGTGTGTGTCTGTG TGCATGTGAGTGTATATGCATATGTGTATATATTTATTTGTGTGCATGAG TGTATGTGTGCCTGTGTGTATATGTGTGCATGTGAATGTGTGTATATGTG AGTGTATGTGTGTGCATGTGTGTATGTGTGTGTCTGTGCATGTGAGTGTG TATGCATGTGTATATGTGCATGTGTATGCGTGTGAGTGCATGTGTGTATA TGTGCATGCATGTGTGTATGTTCATGTGTATATGTGCGTATGTGTATATG TATGCATATGAGTGTATCTGTGTATGTGCATGTGTGTATGTGTATGTGTG TGTCTGTGTGCATGAGTTTGTGTATGTGCATGTATGTATATGTGCATGTG TATGTGTCTGTGTGCATGTGAGTGTATGTATGTGCATGTGTATATGTGCA TATCTCTGCATGTTTGTGTATGTGCATGTGTATGTGTGTGTGCATGAGTG CATGTGTATGCATGTGTATGTATGTGTATGAGTGTGTATGTGCATGTGTG TATGTATGCATGCATGTGTGTGCATGTGTGTATGTGTGCATGTGTATATG TGTGTATGTGTGTGGGTATGTGTATGCATGTGCATGTGTATATGTGCGTG TGTATGTGTTTATGTGTGCATGTGA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0230 a0001c0001t0006g0230	1	436	0.0023	-1274	c.801 others(17): Show c.801+8033_802-7427del	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	11/11			chr12	TogoVar
NPSR1_chr7_34653218_34854978	34801790	CAGATGAC others(1267): Show CAGATGACATGATTGTATATCTAGCCCCATCATCTCAGCCCCAAATCTCC TTAAGCTGATAGGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTA CAAAAATCACAAGCATTCTTATACACCAATAACAGACAATCAGAGAGCCA AATCATGAGGGAACACCCATTCACAATTGCTTCAAAGAGAATAAAATACC TAGGAATCCAACTTACAAGTGACGTGAAGGACCTCTTCAAGGAGAACTAC AAACCACTGCTCAATGAAATAAAAGAGGATACAAAGAAATGGAAGAACAT TCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGCCCATACTGC CCAAGGTATTTTATAGATTCAATGCCATCCCCATCAAGCTACAAATGACT TTCTTCACAGAATTGGAAAAAACTACTTTAAACTTCATATGGAACCAAAA AAGAGCTCACATCGCGAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAG GCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAATAACCAAA ACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAAC AGAGCCCTCAGAAATAACGCCGCATATCTACAACTATCTGATCTTTGACA AACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAACGG TGCTGGGAAAACTGGATAGCCATATGTAGAAAGCTGAAACTGGATCCCTT CCTTACACCTCATACAAAAATCAATTCAAGATGGATTAAAGACTAAATTG TTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAAGCATTACCATT CAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAAT GGCAACAAAAGCCATAATTGACAAATGGGATCTAATTAAACTAAAGAGCT TCTGCACAGCAAAGGAAACTACCATCAGAGTGAACAGGCAACCTACAAAA TGGGAGACAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAG AATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCA TCAAAAAGTGGGCGAAGGACAAGAACAGACACTTCTCAAAAGAAGTCATT TATGCAGGCAAAAAACACATGAAAAAATGCTCACCACCACTGGCCATCAG AGAAATGCAAATCAAAACCACAATGAGCTACCATCTCACACCAGTTAGAA TGGCAATCATTAAAAAGTCAGGAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02717.hp1 others(6): Show HG01891.hp1 HG02486.hp1 HG02717.hp1 HG02723.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03471.hp1 NA20129.hp2	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0002 a0003c0005 a0018c0026 a0001c0002 a0003c0005 a0018c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0003c0005t0002 a0018c0026t0004	a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0002g0120 others(6): Show a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0002g0120 a0001c0002t0002g0175 a0001c0002t0003g0177 a0001c0002t0004g0006 a0001c0002t0004g0007 a0003c0005t0002g0126 a0018c0026t0004g0008	9	260	0.0346	-1274	c.385 others(17): Show c.385-9979_385-8706del	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8			chr7	TogoVar
BRSK2_chr11_1384934_1467689	1430827	GTCTGGTC others(1266): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	360	0.0028	-1273	c.92- others(15): Show c.92-5212_92-3940del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
RPH3AL_chr17_207389_357807	254937	ATCCCTAG others(1266): Show ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTT CCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTT CCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGT GACTACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACT TCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACG TGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTG TTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCC GCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTAC TTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGGAAT GTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGC TGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	133	0.0075	-1273	c.439 others(17): Show c.439-8925_439-7653del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SMTNL2_chr17_4579529_4613319	4610407	TGGGCGCG others(1266): Show TGGGCGCGGTGGCTCATGCCTGTAGTCCTAGCACTTTGGGAGGCCGAGAC AGGACAAATATTTGAGCTCTGGAGTTTGAGACCAGCCTGGGCAACAGAGT GAGACTCTGTCTCTACAGAAAGTTTTAAAATTAGCCAGGTGTAGTGACAC ATGCTTGTAGTCCCCATTACTTGGAAGGCCAAGGCGGGAGGATGGCTTGA GCCTGGGAGGTCAAGGCATCAGTGAGCGATGGTTGTGCCACTGCCTGGAG ATAGAGTGAGACCCTGTCTCAAAAAAGAAAGAAAGAAAGAAAGAAAAATC CCTAAGACCTGACCTGCCTACTCCCTAGAAAGCACCAAATAAGGAAAAGC ACTCCGGAAGAATGAAGCTAAGAAGGCTGTGCTCTCTGAGGCATCCGGGC AGCCTTCACTGGAGGGACAAGGTCCAGGTAGGTGGGATGACAAGCTGGGA AGGGGCCCTGAACCAGAGGCAGGTGATGTGGGTGGTGGCACCAGAGAGAC ACCAGACAGTGTTACCGTAGGTCTTGACTGTCCACCTTCATTCCTGAAGT TGATCCAGCTTTCTTACTGTCACGTAGGTGGATATAAAATCGATCTTTAG GGTTCTGATTTTTTGTTTGTTTTTGTTTTTTTTGAGACGGAGTCTCACTC TGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTC CACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGTGTAGCTGG ATGTACAGGCGCCCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAC AGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCA AGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGCGCCCGGCCGGGGATCTGAGTTTTAATCACTCCCAGTGCAAGCG TCCTTATCTGGTTTGCAGACTGAGTGGCATTTGTGCTGCCGAGGCTCTTC CTGGCTTGCCCTCCTCTCTGGCTGTTGCTTTCCCTCCTCTGTTCATTAGA GCCTCCTCTCCTCGGCTTGTTGCTCCTATGTGCTGTGACCTAAGCTCTAT GCTCCTTCTTCTACATTAGGGTTCATAGCCCAGGACTTTGGGGAGTCTGT GGATGTCCAAATTGAGTGTTTTACCTCAATTTGGTTGAGGTTGCAGTGAG CCGAGATTGAGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTG TCTCAAAAAATTGTATTTCTGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	442	0.0023	-1273	c.29 others(11): Show c.2921_*4193del	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding		2089		chr17	TogoVar
TAF11L10_chr5_17592232_17602828	17601555	TTTTTTTT others(1266): Show TTTTTTTTTTTTTTTTTAAGGGAGGCGGTCTGGAACTCGAGTTCAAGTGA TCTGCCAGTTCGGCCACCCAAAATGGTGGGATAACAGGAATAAGCCACTG TGCATGGTCTGAGATACAAATATGATTGAAAGGGATGATCAAACAGGCTG CTGCCTTCATCTGGGTGTAACCAATGTAAAATGTAAGAAAGACGTTAAAT TACGGGTAAGTCCAGGATGGGCTGAGATACTGAAGCTCCAGCATAGAAAG TGTGCTCTCATAGAAAGACTAGAAGCAGTACTTTCTCCTCTAAAATCAGG CCTTTCTATCTGGGCTGGGATCTGGAGGAAGATGGGTTTTTTTTTTTTTT TCTCGATGTTGGGGGAATGGGCCCTGGGCTGTCCCCTGTGTAAGGCCTCG CTGCAATGCTTGGGTTGCAGCAGGGATATGTCTCCCCACATCTCACACAT GTCCAGCGCCTCTCCTACCAGCTCGTGGACCAAGACCTGGGTCATTCCAG CCATGGCTACGGCTGTGACTACGTTCTAGGACACTGAACTGCTGGTGATG GACTGCATCGGACTTCTAAAGGCTGCCTCTCTCCCTTTTTCACCCACAAA CAGACCTACAGTGGTTTTTCTGCCTCCTGTAATGTGAAGCAACTTGTGGA TAAAGAGTATTTTCACATTTTAGAAAGTAGAGGTCAATGTGTGTTCACAG GAAACTAGCAGGAGCAGTCTGTGAGACAGGGAACATTGCAAACATGGAGC TGCATATAGAAAAAGTTAAAGTGTGGATCCCATCCACCGTTTGATCAATT GCAGGAGACATTGTCTATTTGGCACCTATACATTTACTTGATTTTCAATA ATATTAAGGAACTCATTTCTCCACAATTTTTCTTGATGTGATATGCAGAA ACGTGTTCACTGAGACATTTCGATGAATGCATTAGACCCTCAATGTAGTT TGGAAGTTTACAAACAAAACAAAATGGAAACACAGTCACTAGCTGTGACT TCTGCTTCTATTTTTACTCCCGATCATATGCTTAGCTACTTTTTGACCCC ATGCGAGAAACGATACTATCTCTGAACAGAACTTCTAACATCATATCTAT CATTAACAGAAAGAAAACACAACACAGCAAAAGAGAAACCATTAACAGAG AAAAACACAACACAACACAAAGGAAACCATTTGCAATGCAAGATTTCCCA GGAGTGTGGGCTCTTAAGCACCCTCTCCACGGAGGCTGTGGGCCAGCTGC ATGTCTCTGGGCATAACTGGGACT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	352	0.0028	-1273	c.-50 others(11): Show c.-5000_-3728del	TAF11L10	ENSG00000284356.1	transcript	ENST00000638842.1	protein_coding		3728		chr5	TogoVar
ADGRG6_chr6_142297007_142451261	142434299	GAGATCAA others(1265): Show GAGATCAACATATTTAAATTTCCCAGAATTTTTTTTTCTTTTTTGAGACG GAGTCTCGCACTGTCACCCAGGATGGAGTGGAATGGCACGATCTCGGCTC ACTGCAACCTCCGCCTCCCGAGTTCAAGCAATTCTCCTGCTGCAGCCTCC TGAGTAGCTAGGATTACAGGTGCCAACCACCACATCCGGCTAATTTTTTG TGTTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCAGCTC CTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTGCAG GTGTAAGCCACCGCGTCCGGCCCTGAAGAACTTTTTATGGGCTGGTCATC TACTTGAAATCAATGACCAAATATAGTCAGTACTTTCATAGTGGCATTTT TCTGCAAGTCAAAATATGTAATGATTCTTCAGTAATTTAAATAGGAATTT ATAGACAGCACCTATTAAGTATCAGGGCTTGTGCTCAGTTGCTAATCACC AAACAACAAGCTAAACCTAGAGGAGAATCAGCCTAGTCATTTTACTGTGA TCAGGACCCATCATGTAGAAATTAAGCTCCTTTTCTATAATAACATTTGC TAATAATGTAATTTATTCTGAAAACTAAGGGCCGCTTTGAATCTTCGTAT TAAAAAATAAAACATGTAAGCATAACCTTAGACTTATTTTGCAAATTTAT GCAAACAGTACTCTAAAGAGAGTACTGTTAAGACTTTTTCCCACTTTTTC CATTGTACAAGCTGCAATGTAGTTTTCTTGATGAATACTCCATATTCAAA AGGAACATATAAGTTTTAATGATCCCTTAAAAGGACTGTCATAAGTTTTA CATTTATGCCATTCCATACTAGACCCTTTGTTCCATGAATACAAGGATTG CCTACCTGGTTCACCATTGAATCTCCAACTCCTAAAACACAGTGCCTCCT GCTTAGCAGCGCTTAATAAATTGTCACTGAATCAATTACCCTTCCTGGAA ACTTCCCTCACTTCCCTACTGAACTTAAGGTTCAGTTCAAGCGCTAGATC CCCTAAAAAGCCCTCCCTTATGTAGATATACTGCTTAATGTTTTACTGGG ACACAACCTCAGCAACTTATTTGCATGCTTTTCAGAAACTTTTTCCTTAA ATATGTTTTCTTTTCATTCCTATTACCTCTTAATTTGACCGCTCAGTCCT ATTTTTAACCTCCACGTCTCCAAACACATTTAACACATTAGAGTATACAT GTAAGCATTCAATTAACTCATGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0180 a0002c0003t0002g0180	1	260	0.0039	-1272	c.332 others(19): Show c.3320-3131_3320-1860del	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBCE_chr1_235362427_235457443	235373750	GCCATTCT others(1265): Show GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGC CACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGTGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCACCCAGACT TGTATTTTTATTTTTTAAATTTTAAAATTTTATTTATTTTTTTGAGACTG AGTCTTTCTTTGTTGCCCAGGCTGGAATGCAATGGCATACCTTGGCTGAC TGCAGCCTCCGCCTCTTGGGTTCAAGCCTCCAGAGTAGCTGGGATTACGG GTGCTTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGT TTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCAGATAATCCA CCCTCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTTTGC CTAGCCTACACTGTTAAATGAATGCTTTTCAGACCATTGTACCCCACGTG CAGGTCAGGCCACATCTGGAATGTGGCGTTCAGTTCTAGATATCGCAATT TAAGCATGGAATCAGTAAATCAGTTACAGAGGAAAACTGGAATGCTATAA GGAGGGTTTAAGGAGCTGGAAATGTTTACCCTGGTAGAGAGGTTTGGGAG ATGAAGACAGGAAGCAGGGAAAGCAGAAATGGTAACAAATGGCCTTCCAT ATTTATTTATTTATTTTTTGAGACTGAATCTCCCTCTGTCGCCCAGGCTG AAGTGCAGTGGTGCAATCTGGGCTCACTGCAACCTCCGCCTCCTGGATTC AAGTGATTCTCCTGCCTCAGCCTCCCTAGGAGCTGGGATTACAGGTATCC GCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGTCACCCAC CTTGTCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCTACTGTGCCCAGC TGGCCTTCCACATTTAAATGTTGTCTGGGAAAGGGAATATATTGATTCTC TGTAGCTACATAGGGCAGTAGTAGAAAATTACTAGGTGAAAATGATAGAG ATGTAGATTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTC TCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AAGCTCCGCCTCCTGGGTTCACA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01106.hp2 others(31): Show HG00642.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01361.hp1 HG01891.hp1 HG02027.hp1 HG02055.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18954.hp2 NA18995.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0002c0002t0010	a0001c0001t0002g0179 a0001c0001t0004g0006 a0001c0001t0004g0007 others(31): Show a0001c0001t0002g0179 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0011 a0001c0001t0004g0027 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0050 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0197 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0263 a0001c0001t0009g0008 a0001c0001t0009g0020 a0001c0001t0009g0022 a0001c0001t0017g0021 a0001c0001t0019g0157 a0002c0002t0010g0017 a0002c0002t0010g0019 a0002c0002t0010g0023	34	268	0.1269	-1272	c.-31 others(17): Show c.-31-6228_-31-4957del	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TGFBR3_chr1_91675343_91891151	91766504	GATCATTA others(1265): Show GATCATTAGAAGCTGATTTACAAAATAAGCATAGCAGGAACTCAATTCCC ACAAAATCTGAGTACTGGAGTAATCATTCCACCTGCTACGTGCAGTCAGA GATTGAAGCTGTCCTCACTGGGTTAACAAGAATTCCGGACAGAAAATATA ATTAAGCATTAACATGCTGCTCTTTGACCTAGTTTCTTGTAACCAAGTCA CATAGCACTAGATTCTCACCATTTGCATCCCCATTGCTCCTATAGATAGA TAGGATGTCTGATGTTAGAATCCTAAGGGTTTTGTTTGAGAGTTGCATGA GCAGATCCTGAATTCCAACGGGACAGCTGACACCAACCAGTTTAAAGACT CCCACAAAGGAACCACCAAATCAGCATGAGAACACAGTTTCTTCATCCCC CTGTCCCACGACTTTACCCTGCACTCTTCGACCCATCAACAATCTCCATA TTTCAGCCCACCCAAAACCCTTAAAAACTCCAACCCCAAACTCCTGTGGG AGATGGATTTGAGTTTTCCCCCAGTTCAGCAGCTGTACAATTAAACCTCT GTCTCTGCTGCAACCTGGTATCTCAGTGTATTGACTTGCCACGCACGTTG GACAATGAACCTATTATGGCTGTAAGATCTCAATAAGGATTTCTGTTTAA GCAGCATCTTAAAGTTAGTTAATTTGTAATAGCAAAAACAAACAAACAAA ACCCCACAAAATGCAGTTGTAGTCAGGTAGCGATTTAAGATGCTCTCAGC AGCAAAGGATGGCATTTGGATTCCCCTGGGCTAAAGTACAATCTTAGAAA GTATATTAACCTGAAGCTGGTAAGGAATTCTTTAGGAGTACAGTGTTACC TTGCTAGCAGAAATCAGAAATCCAGAGAGGAGTAATTACTAAGACATGAA CATTCAAAAACACCGCACTTGGATTATTGTTAAAAATCATGGTGGCAGCA GTAGTAATAACCATCATCATCATCATCTCCTAAGGAAAGACAATAGGTAG ATCCATGGCTCCTGTTGAGATTTGCTGCTCTCATCAAAAGGAAGTGCTCT GCGTAATATCTAATTACTCCCATCTTAAAGGTAAAGAAATTGGTGTTCTT GCCAAAGTCATATGGCTAGAAAATGACAGTGCTGGAAGTAGAATGAATGT CTCTCCCTGTCTGTCTGTCTGTCTCTCCCCCTACCTACCCACCCCCATCT TTAATCTTGGGTGTTAGTCTTGGGACATAGAGGAGAATGGGAAGCTGCTC TATAGCAGTAAGAGGCAGGAACT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00738.hp1 others(70): Show HG00099.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02074.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18947.hp2 NA18964.hp2 NA18988.hp1 NA18991.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0001c0025 a0001c0034 a0001c0035 a0002c0004 a0002c0010 a0002c0012 a0002c0016 a0002c0038 a0009c0032 a0011c0031	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(41): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0038 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0016 a0001c0005t0005 a0001c0006t0003 a0001c0006t0007 a0001c0006t0011 a0001c0006t0016 a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 a0001c0007t0006 a0001c0007t0008 a0001c0015t0004 a0001c0025t0001 a0001c0034t0027 a0001c0035t0003 a0002c0004t0002 a0002c0004t0009 a0002c0004t0013 a0002c0004t0031 a0002c0010t0021 a0002c0012t0010 a0002c0012t0032 a0002c0016t0009 a0002c0016t0024 a0002c0038t0014 a0009c0032t0001 a0011c0031t0019	a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0082 others(70): Show a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0132 a0001c0001t0004g0025 a0001c0001t0004g0031 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0272 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0098 a0001c0001t0005g0165 a0001c0001t0005g0231 a0001c0001t0005g0255 a0001c0001t0005g0274 a0001c0001t0006g0043 a0001c0001t0006g0051 a0001c0001t0006g0240 a0001c0001t0007g0046 a0001c0001t0007g0084 a0001c0001t0011g0028 a0001c0001t0017g0264 a0001c0001t0038g0030 a0001c0001t0043g0032 a0001c0001t0047g0044 a0001c0001t0048g0062 a0001c0001t0049g0040 a0001c0001t0050g0271 a0001c0001t0052g0022 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0005g0114 a0001c0003t0007g0164 a0001c0003t0016g0256 a0001c0005t0005g0154 a0001c0005t0005g0155 a0001c0005t0005g0269 a0001c0006t0003g0052 a0001c0006t0007g0041 a0001c0006t0007g0106 a0001c0006t0007g0109 a0001c0006t0007g0112 a0001c0006t0011g0045 a0001c0006t0016g0277 a0001c0007t0001g0107 a0001c0007t0003g0104 a0001c0007t0005g0070 a0001c0007t0006g0229 a0001c0007t0008g0056 a0001c0015t0004g0073 a0001c0015t0004g0078 a0001c0015t0004g0081 a0001c0025t0001g0253 a0001c0034t0027g0001 a0001c0035t0003g0053 a0002c0004t0002g0197 a0002c0004t0009g0203 a0002c0004t0013g0243 a0002c0004t0031g0184 a0002c0010t0021g0178 a0002c0012t0010g0060 a0002c0012t0032g0242 a0002c0016t0009g0216 a0002c0016t0024g0210 a0002c0016t0024g0218 a0002c0038t0014g0171 a0009c0032t0001g0039 a0011c0031t0019g0024	73	284	0.2570	-1272	c.247 others(17): Show c.247-9026_247-7755del	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	3/16			chr1	TogoVar
BRSK2_chr11_1384934_1467689	1431818	GTCTGGTC others(1264): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCCTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	360	0.0028	-1271	c.92- others(15): Show c.92-4221_92-2951del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431865	GTCTGGTC others(1264): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCCTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04115.hp2 HG01261.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0074 a0001c0001t0006 a0001c0001t0074	a0001c0001t0006g0215 a0001c0001t0074g0213 a0001c0001t0006g0215 a0001c0001t0074g0213	2	360	0.0056	-1271	c.92- others(15): Show c.92-4174_92-2904del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CYP2A7_chr19_40870439_40887231	40872260	TAATCCAT others(1264): Show TAATCCATGAACACAGAATATCTTTTCAATTTTTGGTGTCCTCTTCAATT TCTTTTATCAGTGTTTTATAGTTTTCATTATAGAGATCCTTTACTTCTTT GGTTAATTCCTAGGTATTTCATTGTATTGCAGCTACTGTAAATGAGATCA CTTTTGTTTTGAGATAAGGTCTTGCTCTGTCACGCAGAGCTGGAGTGCAG TGATGTGATCTTGGCTCACTGCAGCCTAGACCTCCTGGGCTCAAGAGATT CTCCTACTTTGGCCTCCCAGGTAGCTGGGATTACAGGCGCACACCACCAG GCCCAGCTAATTTTTAAAATATTTGTAGTAGAGATGGGGTTTTGACATGT TGCCCAGGCTGGATTTTTAAAAATTTCTTTTTTAAATTGTTTGCTGTTGG CAGATAGAAATGCTAGTGATTTTTGTATGTTGATTTTGTATCCTGCAACT TTACTGAATTTGTTTATCAGTTCTAATAGTTTTTTTGTGGAGCCTTTAGG TTTTTCCAAATATAGGATCATATCATCTACAAACAAGGATAATTTGACTT CTCCCTTTCCAATTTGGATGCGTTTTTTTTCCTTCTCTTGTCTAATTGCT CTAGCTAGGACTTCTGGTACTATGTCAAATAACAGTGGTGAAAGTGGGCA TCTTTGTCATGTTCCAGATCTTAGAGGAAGACTTTCAGTTATTCCCCATT CAATATGATATTAGCTGTGGGTCTGTCATTCATGGCTTTTATTATGTTGA GATATCTTCCTGCTATACCTAGTTTTTTGAGGGCTTTTATTATGAATGGA TGTTGAATTCCATCAAATGCTTTTTCAGCATCAGTTGAGATGATCATATG GTTTTTCTTCTTCATTCTGTTGTTATGATGTATCACACTGATTGATCTGA GGTGCCACCTCAGTTGCAATAGAATAGAGCACCAGGTAGATTGCTAAGGC CCTGGCTCCTGGACAGCATCTCTATTCCTCCCTGGGGCCTGGAAGAACTC ACCACCCCAAAGGGAAGAACAAAAACCTCCCTCCTCCCTAAACTCCTGGC AACTACTATCTTGTACTGTCTTCACAGTTTCATTTCTCCAGAATGTCATA TAGTTGGAATCATATAGTATGTGGCCTTTTCAGACTGGCTTCTTTCACTT AGCTACATACATTTCAGGTTCTTCCATGTCCTTCTGTGGCCTGATTTCTT TTTATTGCCAAATCATATTTCTTTTCTTTCTTTCTTTCTTTTTTTTGGCT TTTTTTTTTTTTTTTGAGACAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01928.hp2 HG02056.hp2 others(8): Show HG01243.hp2 HG01928.hp2 HG02056.hp2 HG02083.hp2 HG02165.hp2 HG02738.hp2 NA18970.hp2 NA18971.hp2 NA19005.hp2 NA19077.hp2 NA19079.hp2	a0003 a0019 a0021 a0003 a0019 a0021	a0003c0002 a0019c0024 a0021c0025 a0003c0002 a0019c0024 a0021c0025	a0003c0002t0003 a0003c0002t0005 a0003c0002t0006 others(2): Show a0003c0002t0003 a0003c0002t0005 a0003c0002t0006 a0019c0024t0005 a0021c0025t0010	a0003c0002t0003g0191 a0003c0002t0005g0161 a0003c0002t0005g0162 others(8): Show a0003c0002t0003g0191 a0003c0002t0005g0161 a0003c0002t0005g0162 a0003c0002t0005g0163 a0003c0002t0005g0171 a0003c0002t0005g0186 a0003c0002t0006g0167 a0019c0024t0005g0179 a0019c0024t0005g0188 a0021c0025t0010g0115 a0021c0025t0010g0116	11	398	0.0276	-1271	c.21 others(11): Show c.2162_*3432del	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding		3178		chr19	TogoVar
DACT2_chr6_168301904_168324777	168316596	ATGTGTGT others(1264): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCAC GCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAG CACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGC TGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCA TCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGT GTGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02559.hp2 others(5): Show HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02738.hp2 HG02976.hp1 HG03453.hp2 HG03486.hp1 NA18945.hp2	a0002 a0005 a0025 a0002 a0005 a0025	a0002c0002 a0002c0003 a0002c0005 others(2): Show a0002c0002 a0002c0003 a0002c0005 a0005c0007 a0025c0037	a0002c0002t0007 a0002c0003t0003 a0002c0003t0010 others(3): Show a0002c0002t0007 a0002c0003t0003 a0002c0003t0010 a0002c0005t0006 a0005c0007t0004 a0025c0037t0003	a0002c0002t0007g0108 a0002c0003t0003g0093 a0002c0003t0010g0094 others(3): Show a0002c0002t0007g0108 a0002c0003t0003g0093 a0002c0003t0010g0094 a0002c0005t0006g0272 a0005c0007t0004g0021 a0025c0037t0003g0182	8	476	0.0168	-1271	c.246 others(17): Show c.246+1521_246+2791del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
HK1_chr10_69273496_69406882	69297616	CGGATGTG others(1264): Show CGGATGTGGTGGCTTATTCCTGTAATCCCAGCACTTTGGAAGGCCGGGGT TGGCGTATCACCTGAGGTCGGGTGTTTAAGACCAGCCTGGCCAACACGGT AAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCAGACATGGTGGTG TGCATCTGTAATCCCAACTACTTGGGAGGCTGAGGCACGAGAATCGCTTG AACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCCTGCCACTGCACTCC AGCTTGGGCCACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAGAAAAAA AAGTGCTTGGTCGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCAGATGTATCACCTGAGGTCAGGAGTTCCAGACCA GCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAG CCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGG CAGGAGAAATGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCTGAGATC ATGCCATTGCACTCCAGCCTGGGCAAGAAGAGAGAAACTCCATCTCAAGG AAAAAAAGAAAAAAAAAGAATTGCTTGGTTGAAGTAGTCTTACGTATCAT GTTATTTGGGTTTAATTAGACTGATCCTCACAAAATAGGCAAGTGGTTTT AAAAGATTTCTGCATAAAAAATGTGGGTTGAGACAGGTGTAGTGACTCAT ACCTGTAATACCAGTGCTTTAAAAGACCAAGGAGAGGATCACTTGAGGCC AGGGTCTTGAGAACATCCTGGGCAACATAGCAAGACCTCATCTCTAAAAA AAATTGTAAAAATTAGCTGAGCATGGTGATGTGTGCCTACAATCCCAGCT ACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAGTCCAAGAGTTTGAGGCT GCAGTGAGCTATGATTTGTGCCCCTGCACCCCAGCGTGGGTGACAGTGAG ACCCTGTCTCTTAAAAGGAAAAAAAAAAGTAGAAGCTTTTGAAGCTAACA CAAATGAACAATGAGAAAATAAGATGGCTGATAATTTTCCTACCCCTGGT ACAGACTATTCAGCTACATCATGGGGTTGAAAGAAGATAAAGATCTTATT AGATATAATGCCAAGTCAGTCAAAAAATTAAAAATTAGCAGGCTATTTAA ATTCTGGCTTTACATATGATATTGTTAATGATGAACTAATCACTATGTGT ACAGAGTGCCTTGAGAGAATTA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02647.hp2 others(4): Show HG01081.hp2 HG01884.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0012 a0001c0015 a0001c0023 others(1): Show a0001c0012 a0001c0015 a0001c0023 a0001c0024	a0001c0012t0001 a0001c0015t0001 a0001c0023t0009 others(1): Show a0001c0012t0001 a0001c0015t0001 a0001c0023t0009 a0001c0024t0009	a0001c0012t0001g0148 a0001c0012t0001g0231 a0001c0012t0001g0236 others(4): Show a0001c0012t0001g0148 a0001c0012t0001g0231 a0001c0012t0001g0236 a0001c0015t0001g0233 a0001c0015t0001g0241 a0001c0023t0009g0202 a0001c0024t0009g0237	7	280	0.0250	-1271	c.75+ others(15): Show c.75+1938_75+3208del	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1264): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0001 a0005c0039t0001	a0005c0039t0001g0040 a0005c0039t0001g0040	1	294	0.0034	-1271	c.901 others(14): Show c.901+62_902-754del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148962	TACCACAC others(1264): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	294	0.0034	-1271	c.901 others(15): Show c.901+106_902-710del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 2609 hits)