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
MROH1_chr8_144143016_144266926	144233363	C C	CCTCCCCC others(832): Show CCTCCCCCGCAGCTCCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCAT CCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTG CACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACC CCACTATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02300.hp2 HG03834.hp2 HG01981.hp2 HG02300.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0084 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0001t0001g0084 a0001c0002t0001g0046 a0001c0002t0001g0048	3	140	0.0214	839	c.133 others(858): Show c.1339-5365_1339-5364insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCA CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCT CTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACT ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCC TGCACCCACCATC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233363	C C	CCTCCCCC others(832): Show CCTCCCCCGCAGCTCCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCAT CCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTG CACCCACCATCCACCTTCCCTCCCCTGCAGCTCCTGCACCCACCATCCAC CTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGTACCCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCC CCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACC CCACTATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	140	0.0071	839	c.133 others(858): Show c.1339-5365_1339-5364insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCTGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGTACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCT CTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACT ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCC TGCACCCACCATC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667810	T T	TCCTTACC others(832): Show TCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGG TCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGC CTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGT CCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0213 a0010c0021t0001g0213	1	378	0.0027	839	c.148 others(858): Show c.1480-3061_1480-3060insGAGAGCCTAGGGACACAAGGTAGGTA AGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAG GGTCGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGG CCACAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGG others(832): Show GGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAG ACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	242	0.0041	839	c.360 others(858): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACT CCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCT TGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCC CCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTC TGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGA CCCCAGCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCDH15_chr10_53797771_54806231	54332348	A A	AATATAAT others(832): Show AATATAATATAATCTATATTATATATTATTATATATAATATAATATAATC TATATTATATATTATTATATATAATATAATATAATCTATATTATATATTA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATATAATCTATA TTATATATTATTATATATAATATAATATAATCTATATTATATATTATTAT ATATAATATAATATAATCTATATTATATATTATTATATATAATATAATAT AATCTATATTATATATTATTATATATAATATAATATAATCTATATTATAT ATTATTATATATAATATAATATAATCTATATTATATATTATTATATATAA TATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTA TATTATATTATATATAATATAATATAATCTATATTATATATTATTATATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA20905.hp2 HG03942.hp2 NA20905.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0002 a0006c0006t0005 a0003c0003t0002 a0006c0006t0005	a0003c0003t0002g0020 a0006c0006t0005g0055 a0003c0003t0002g0020 a0006c0006t0005g0055	2	102	0.0196	839	c.595 others(856): Show c.595-2643_595-2642insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATAATATATAATATAGATTATATTATATTATAT ATAATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATAGATTATATTATATTATATATAATAATATATAATATAGATTATATTA TATTATATATAATAATATATAATATAGATTATATTATATTATATATAATA ATATATAATATAGATTATATTATATTATATATAATAATATATAATATAGA TTATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332348	A A	AATATAAT others(832): Show AATATAATATAATCTATATTATATATTATTATATATAATATAATATAATC TATATTATATATTATTATATATAATATAATATAATCTATATTATATATTA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATATAATCTATA TTATATATTATTATATATAATATAATATAATCTATATTATATATTATTAT ATATAATATAATATAATCTATATTATATATTATTATATATAATATAATAT AATCTATATTATATATTATTATATATAATATAATATAATCTATATTATAT ATTATTATATATAATATAATATAATCTATATTATATATTATTATATATAA TATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTA TATTATATTATATATAATATAATATAATCTATATTATATATTATTATATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA20905.hp1 HG03942.hp2 NA20905.hp1	a0003 a0006 a0003 a0006	a0003c0005 a0006c0008 a0003c0005 a0006c0008	a0003c0005t0001 a0006c0008t0001 a0003c0005t0001 a0006c0008t0001	a0003c0005t0001g0020 a0006c0008t0001g0053 a0003c0005t0001g0020 a0006c0008t0001g0053	2	94	0.0213	839	c.595 others(856): Show c.595-2643_595-2642insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATAATATATAATATAGATTATATTATATTATAT ATAATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATAGATTATATTATATTATATATAATAATATATAATATAGATTATATTA TATTATATATAATAATATATAATATAGATTATATTATATTATATATAATA ATATATAATATAGATTATATTATATTATATATAATAATATATAATATAGA TTATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PIEZO1_chr16_88710338_88790220	88713164	A A	ACCCGAGA others(832): Show ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03130.hp2 HG03225.hp2 HG01346.hp1 HG03130.hp2 HG03225.hp2	a0003 a0033 a0070 a0003 a0033 a0070	a0003c0005 a0033c0039 a0070c0094 a0003c0005 a0033c0039 a0070c0094	a0003c0005t0001 a0033c0039t0001 a0070c0094t0008 a0003c0005t0001 a0033c0039t0001 a0070c0094t0008	a0003c0005t0001g0194 a0033c0039t0001g0185 a0070c0094t0008g0279 a0003c0005t0001g0194 a0033c0039t0001g0185 a0070c0094t0008g0279	3	282	0.0106	839	c.24 others(850): Show c.2440_*2441insGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCC GGGGAAGGAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCA GGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGT CAGGACCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2173		chr16	TogoVar
PKP3_chr11_389209_409908	398269	A A	ACCCGCAC others(832): Show ACCCGCACATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCC GTACCCCCGCACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACC CCCGCACACACCTGCATCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTCCGTCACCTCCCTACCCCCGCACACACCT GCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCATACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	216	0.0046	839	c.106 others(856): Show c.1068+615_1068+616insTACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACAC CTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCATACCCCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCTG TCACCTCCCTACCCCCGCACACACCTGCATCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCCTACC CCCGCACACACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCATACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT CCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(832): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCATACCCCCACACACAC CTCCGTCACCTCCGTACCCCCACACACACCTGCGTCACCTCCGTACCCCC GCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCC GTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCATACCCCCACACACACCTCCGTCACCTCCGTACC CCCACACACACCTGCGTCACCTCCGTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	216	0.0046	839	c.106 others(856): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCATACCCCCACACACACCTCCGTCACCTCCGTACCCCCACACACAC CTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTGCATCACCTCCGTACCCCCGCACACACCTCCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCATACCCCCACACA CACCTCCGTCACCTCCGTACCCCCACACACACCTGCGTCACCTCCGTACC CCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PLXNB2_chr22_50269979_50312646	50276362	G G	GCAGGGAG others(832): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGTGGATGGAGCCGCAGGGAGGGGGTGCTGTGGGCACGGCCG AGGGTGCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGCCGTGGATGGAG CCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGAC GGGTGCTGTGGGCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGG GCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGT GGGTGGAGCCACAGGGACCGGCGCTGTGGGCACGGCCCTGGGTGCAGCCG CAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGG GCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGG CACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTG GATGGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCG CAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0001 a0013c0030t0001	a0013c0030t0001g0219 a0013c0030t0001g0219	1	302	0.0033	839	c.533 others(856): Show c.5337+266_5337+267insTGGCTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCC TGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCA TGCCCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGT GCCCCCTCCCTGCGGCTGCACCCAGGGCCGTGCCCACAGCGCCGGTCCCT GTGGCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCAC CCACGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCTGTG CCCACAGCACCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCC CCCTCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCCTCCCTG CGGCTGCACCCTCGGCCGTGCCCACAGCACCCCCTCCCTGCGGCTCCATC CACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTG CCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGC CCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTG CGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACC CTCGGCCGTGCCCACAGCGCCCCCCTCCCTGCGGCTGCACCCACGGCCGT GCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCG CCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(832): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACATT ATACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGT ATATGTAATATATATTATACATTATTATATAAGTATATGTAATATATATT ATACATTATTATATAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03831.hp1 HG03017.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0066 a0001c0001t0008g0065 a0001c0001t0002g0066 a0001c0001t0008g0065	2	220	0.0091	839	c.24+ others(856): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATAC ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGCATATAATATAT AATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
SARDH_chr9_133658560_133743352	133668573	T T	TCTCCCTC others(832): Show TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCT CTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATC CTCCCTCTCCCTCACCCCCCTCTCCCCTCACCCTCCCTCTCCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTC CCTCTCCCTCACCTTCCCTCTCCCTCACCTCCCTCTCCCTCACCCTCCAT CTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTCCCTCT CCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCCTCACCCTCCCTCT CCCTCTCCCTCCCTCCCCTCCCCTCACCCTCACCCTCCCACCTCCCCTCA CCCTCCCTCTCCCCACACCCACCCACCCCCCACACCCCTCCCTCACCCAC ACCCTCCCTCACCCCCTCACCCCCACCCCCCACCCTCCCTCTCCCTCACC CTCCCTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCCTTACCCTCCCCCACCCTCTCCCTCACCTTCCCTCTCCCCTACCCT CCCCTCCCTCACCCTCCCCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCT CTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCT CCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0002 a0001c0048t0002	a0001c0048t0002g0244 a0001c0048t0002g0244	1	262	0.0038	839	c.249 others(858): Show c.2496-1704_2496-1703insGATGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAG AGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAG GGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGGGGA GGGTGAGGGAGGGGAGGGTAGGGGAGAGGGAAGGTGAGGGAGAGGGTGGG GGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGAT GAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGGGGGGTGGGGGTGAGG GGGTGAGGGAGGGTGTGGGTGAGGGAGGGGTGTGGGGGGTGGGTGGGTGT GGGGAGAGGGAGGGTGAGGGGAGGTGGGAGGGTGAGGGTGAGGGGAGGGG AGGGAGGGAGAGGGAGAGGGAGGGTGAGGGGGAGAGGGAGGGTGAGGGAG AGGGAGGGTAAGGGAGAGGGAGGTGAGGGAGAGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAGGTGAGGGAGAGGGA AGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGG GTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGGGG TGAGGGAGAGGGAGGATGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTAAGGGGAGAGG GAGGGTGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(832): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGGCAGTGGAGACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAG GAACAGGAGGAGGAGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCC CAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGA AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGG GGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGCAGAGGAGGAGGAAGA GGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGG AGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0041	1	203	0.0049	839	c.-12 others(858): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCTGCTGTCTCCACTGCCCCTGGC ATCTGGGACGTCCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCC TCCTCCTCCTGTTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCCGGCATC TGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTCCTCCT CCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(832): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp1 HG02717.hp1 HG03209.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0031 a0003c0014t0031	a0003c0014t0031g0018 a0003c0014t0031g0021 a0003c0014t0031g0018 a0003c0014t0031g0021	2	314	0.0064	839	c.916 others(856): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTC CTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCT TCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCT CCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCT CCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCT TCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTC CTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCT CTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCT CCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCC TTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTC CTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTT CTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCT CCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCT CCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(832): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0031 a0001c0004t0006g0031	1	314	0.0032	839	c.916 others(856): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTC CTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTT CTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCC CCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCT CCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTC CCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTC TTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCT CCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCT CCTTCTTCTCCTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCC TTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTC CTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTT CTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCT CCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCT CCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SHC2_chr19_411589_466033	434567	A A	AGTGAGAT others(832): Show AGTGAGATCGTGAGTGAGATCGTGAGTGAGATCATGAGTGAGATCGTGAG TGATGGAGATCGTGAGTCTGTGAGTGAATGAGATTGTGAGTGAGTCTGTG AGTGAGATTGTGAGTGAGATCATGAGTCTGTGAGTGTGAGCATGAGATCG TGAGTCTGAGTGAGATGGTGAGTGAGATTGTGAGTGAGATCATGAGTGAG TGACATCGTGAGTGAGATCGTGAGATTGTGAGATGAGATCATGAGTGAGG TGAGTGAGTGAGATCATGAGGTGAGTGAGATCGTGAGATTTTGAGTCTGT GAGTGAGATCGTGAGTGAGATCGTGAGTCTGAGATCATGAGTGAGATCAT GAGTGAGATCGTGATTGAGATGGTGAGTCTGTGAGTGAATGAGATCGTGA TTGAGATGGTGAGTATGAGTGAATGAAATTGAGATTGTGTGTCTGTGAGA TCGTGAGTGAGATCATGAGTACGTGAGACTGTGAGTATGTGAGGGAGTGA GACCGTGAGATCGTGAGTGAGATCGTGAGTCTGTGAGATCATCAGTGAGA TAGTGAGATCATAAGTCTGTGAGATAGATCGTGAGTGAGATTGTGAGATC GTGAGATCATGAGTCTGAGATCGTGAGATTGTCAGATCATGAGTCAGTGA GATCGTGAGATTGTGAGTGAGATCATGAGTGAAATCGTGACTGAGATCGT GAGATCCTGAGTCTGTGAGTGAGTGAATGAGATCGTGAGTGAGTCAGTGA GATCGTGAGTGAGATCGTGAGTCTGTGAGTGAATGAGATCGTGAGTGAGT CTGAGTGAGTGAGATTGTGAGTGGGATCATAAGTGAGTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02922.hp2 others(2): Show HG02572.hp1 HG02818.hp1 HG02922.hp2 HG03540.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0008 a0001c0001 a0001c0005 a0003c0008	a0001c0001t0006 a0001c0005t0006 a0003c0008t0006 a0001c0001t0006 a0001c0005t0006 a0003c0008t0006	a0001c0001t0006g0043 a0001c0001t0006g0049 a0001c0001t0006g0054 others(2): Show a0001c0001t0006g0043 a0001c0001t0006g0049 a0001c0001t0006g0054 a0001c0005t0006g0009 a0003c0008t0006g0185	5	212	0.0236	839	c.111 others(856): Show c.1110+141_1110+142insAGACTCACTTATGATCCCACTCACAATC TCACTCACTCAGACTCACTCACGATCTCATTCACTCACAGACTCACGATC TCACTCACGATCTCACTGACTCACTCACGATCTCATTCACTCACTCACAG ACTCAGGATCTCACGATCTCAGTCACGATTTCACTCATGATCTCACTCAC AATCTCACGATCTCACTGACTCATGATCTGACAATCTCACGATCTCAGAC TCATGATCTCACGATCTCACAATCTCACTCACGATCTATCTCACAGACTT ATGATCTCACTATCTCACTGATGATCTCACAGACTCACGATCTCACTCAC GATCTCACGGTCTCACTCCCTCACATACTCACAGTCTCACGTACTCATGA TCTCACTCACGATCTCACAGACACACAATCTCAATTTCATTCACTCATAC TCACCATCTCAATCACGATCTCATTCACTCACAGACTCACCATCTCAATC ACGATCTCACTCATGATCTCACTCATGATCTCAGACTCACGATCTCACTC ACGATCTCACTCACAGACTCAAAATCTCACGATCTCACTCACCTCATGAT CTCACTCACTCACCTCACTCATGATCTCATCTCACAATCTCACGATCTCA CTCACGATGTCACTCACTCATGATCTCACTCACAATCTCACTCACCATCT CACTCAGACTCACGATCTCATGCTCACACTCACAGACTCATGATCTCACT CACAATCTCACTCACAGACTCACTCACAATCTCATTCACTCACAGACTCA CGATCTCCATCACTCACGATCTCACTCATGATCTCACTCACGATCTCACT CACGATCTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLCO3A1_chr15_91848708_92170903	92047039	T T	TATAAATA others(832): Show TATAAATATATATATAATAATAAATATATATATATATAAATATATATATA ATATATATATATAAATATATATATAATATATATATATATAAATATATATA TAATATATATATAAATATATATATAATATATATATATATAAATATATATA TAATATATATATATATAATTATATATATAATATATATATAAATATATATA TAATATTATATATATATAAATATATATAATATATAAATATATATATAAAT ATATATATAATATATAAATATATATAAATATATATATAATATATAAATAT ATATAAATATATAATATATAAATATATATAAATATATAATATATAAATAT ATATATAATATATAAATATATATAAATATATAATATATAAATATATATAT AATATATAAATATATATAAATATATAATATATAAATATATATATAATATA TAAATATATATATAAATATATATATAATATATAAATATATATATAAATAT ATATATAATATATAAATATATATATAAATATATATAATATATAAATATAT ATATAAATATATATAATATATAAATATATATAATATATAAATATATATAT AAATATATATAATATATAAATATATATATAAATATATAATATATAAATAT ATATACAAATATATATATAATATATAAATATATACAAATATATATATAAT ATATAAATATATATACAAATATATATATAATATATAAATATATATACAAA TATATATATAATATATAAATATATATACAAATATATATATAATATATAAA TATATATACAAATATATATATAATATATAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	190	0.0053	839	c.647 others(858): Show c.647-47841_647-47840insTAAATATATATATAATAATAAATATA TATATATATAAATATATATATAATATATATATATAAATATATATATAATA TATATATATATAAATATATATATAATATATATATAAATATATATATAATA TATATATATATAAATATATATATAATATATATATATATAATTATATATAT AATATATATATAAATATATATATAATATTATATATATATAAATATATATA ATATATAAATATATATATAAATATATATATAATATATAAATATATATAAA TATATATATAATATATAAATATATATAAATATATAATATATAAATATATA TAAATATATAATATATAAATATATATATAATATATAAATATATATAAATA TATAATATATAAATATATATATAATATATAAATATATATAAATATATAAT ATATAAATATATATATAATATATAAATATATATATAAATATATATATAAT ATATAAATATATATATAAATATATATATAATATATAAATATATATATAAA TATATATAATATATAAATATATATATAAATATATATAATATATAAATATA TATAATATATAAATATATATATAAATATATATAATATATAAATATATATA TAAATATATAATATATAAATATATATACAAATATATATATAATATATAAA TATATACAAATATATATATAATATATAAATATATATACAAATATATATAT AATATATAAATATATATACAAATATATATATAATATATAAATATATATAC AAATATATATATAATATATAAATATATATACAAATATATATATAATATAT AAATATATATACA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(832): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGAGAGGGAGA GGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCGAGGGA GAGGGAGGCAAGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGA GGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGG GAGGGAGAGGGAGGCAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGA GGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGCAGGGAGACA GGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGG GAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGA GGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAAG GAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGG GAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCA GGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0104 a0002c0005t0003g0104	1	132	0.0076	839	c.227 others(858): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCTCTCCCTCCCTGCCTCCCTCTCCCTCTC TCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89852527	C C	CCACCCCC others(832): Show CCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAT ATTCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCATCCTCCCTCTCACCCTCAAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0329 a0001c0001t0003g0329	1	356	0.0028	839	c.646 others(856): Show c.646-1751_646-1750insATATTCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCATATTCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCTCAAGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(832): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTC TCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCC CTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCC CTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCC CGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCC CTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTAC CCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCC CTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCCCC TTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCC TCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0082 a0005c0010t0002g0082	1	114	0.0088	839	c.-25 others(858): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCTCTCCTCCCCTCTCTC CTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCC CCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTC TCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTC TCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCC CCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTCC CCTCCCCTCTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCT ACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCC CTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TNNT3_chr11_1914703_1943702	1939654	A A	AACACACA others(832): Show AACACACACACACACACACACAAACATCACCGCCCACAACACACACACAC ACACAAAATCACCCCCCCACAACACACACACACACATCACTCCCTACAAC ACACACACACACAAAAACATCACCCCCCTACAACACACACACACATAACA TCACCCCCCCACAACACACACACAATCCCCCAATACACACACACAATCAC CCCCACAACACACACAATCACCTCAATACACACACAATCACAACACACAC AATCACCCCAACACACACACACAATCACCCCAACACACACACAAACATCA CCCCCCACAACACACACACATCACCCCCCACAACACACACACACATAACA TCACCCTCCACAACACACAATCACCCCCACAACACACAATCACCCCAACA CACACACAATCACCCCTACAATACACATACACACACAAACATCACCCACC ACAACACACACCAACCCCCACAACACACACACACACATAACACCCCCACC ACACACACACAATCACCCACAACACACACAAACACACAAACATCACCCCC CACAACACACACACACATCACCCCCCACAACACACACACACACCACCCCC AACACACACACACCACCTCCCCAACACACACACACCACCCCCCAACACAG ACACATAACATCACCCCCCAAAACACACGCACACATCACCCCCAACACAC ACACATAATATCACCCACCACAACACACACACACACACAAAATCACCCCC AACACACACACATACCACCCCCAACACGCACACACACATCACCCCCCACA ACACACACACATCACCCCAACACACACACCTCCCCACAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	125	0.0080	839	c.11 others(850): Show c.1162_*1163insACACACACACACACACACACAAACATCACCGCCC ACAACACACACACACACACAAAATCACCCCCCCACAACACACACACACAC ATCACTCCCTACAACACACACACACACAAAAACATCACCCCCCTACAACA CACACACACATAACATCACCCCCCCACAACACACACACAATCCCCCAATA CACACACACAATCACCCCCACAACACACACAATCACCTCAATACACACAC AATCACAACACACACAATCACCCCAACACACACACACAATCACCCCAACA CACACACAAACATCACCCCCCACAACACACACACATCACCCCCCACAACA CACACACACATAACATCACCCTCCACAACACACAATCACCCCCACAACAC ACAATCACCCCAACACACACACAATCACCCCTACAATACACATACACACA CAAACATCACCCACCACAACACACACCAACCCCCACAACACACACACACA CATAACACCCCCACCACACACACACAATCACCCACAACACACACAAACAC ACAAACATCACCCCCCACAACACACACACACATCACCCCCCACAACACAC ACACACACCACCCCCAACACACACACACCACCTCCCCAACACACACACAC CACCCCCCAACACAGACACATAACATCACCCCCCAAAACACACGCACACA TCACCCCCAACACACACACATAATATCACCCACCACAACACACACACACA CACAAAATCACCCCCAACACACACACATACCACCCCCAACACGCACACAC ACATCACCCCCCACAACACACACACATCACCCCAACACACACACCTCCCC ACAAC	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		953		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(832): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGT ATATATACATGTATTATACATACGTAAATGTATATATGTATATATACATG TATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATA CGTAAATGTATAATGTATATATACATGTATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATA TATACATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	388	0.0026	839	c.-23 others(856): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATAAT GTATATATACATTATACATTTACGTATGTATAATACATGTATATATACAT TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACATATATACATTTACGTATGTATAATACATGTATATATACATATATAC ATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(832): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATACTATATCATCATATGATGATATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0106 a0001c0001t0074g0106	1	174	0.0058	839	c.41- others(856): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATACTATATCATCATATGATGATATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(832): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATTATATATAATAATATATATATATTATTATATATAAT AATATATATATATTATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAAATATATTATTATATATTATTATATATAATA ATATAATATATATTATATATTATTATATATAATAATATAATATATATTAT ATATTATTATATATAATAATATAATATATATTATTATATATTATTATATA TAATAATATAATATATATTATTATATATTATTATATAATATATATTATTA TATATTATTATATATAATAATATAATATATATTATTATATATAATAATAT AATATATATTATTATATATTATTATATATAATAATATAATATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	238	0.0042	839	c.392 others(856): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATAA TATATATATATTATTATATATAATAATATATATATATTATTATATATAAT TATATATAATAATATATATTATATTATTATATATAATTATATATAATAAT ATATATTATATTATTATATATAATTATATATAATAATATATATTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATAATATATATTATTATATATAATTATATATAATAATAT AATATATATTATTATATATAATAATATATAATAATATATATTATATTATT ATATATAATAATATATAATAATATATATTATATTATTATATATAATTATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TATATTTA others(833): Show TATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATATATATAAATATTTATATATTTATAGATAAATATATAAATATA TATATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATA GATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATATA AATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGA TAAATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0001 a0003c0051t0001	a0003c0051t0001g0011 a0003c0051t0001g0011	1	306	0.0033	840	c.130 others(859): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATAT ATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTATAA ATATATAAATATATATATATTTATATATTTATCTATAAATATATAAATAT TTATATATATATATTTATCTATAAATATATAAATATTTATATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATATAAATATTTATATAT TTATCTATAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADGRA1_chr10_133082924_133136675	133111499	A A	AACCTGCC others(833): Show AACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCTCCAGACAACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTCCAGACAACCTGCCCGCCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCC AGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCTCCAGACCACCTGCCCGCCGTGAGCACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCGCCACGGGCACCTCCCTCCTAATCCCTCCAGACC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	368	0.0027	840	c.401 others(857): Show c.401+8665_401+8666insGCCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGACA CCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCGCCGTG AGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCTCCA GACCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111870	T T	TCCAGACC others(833): Show TCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGC CCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACG GACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCA GACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0328 a0001c0001t0029g0328	1	368	0.0027	840	c.401 others(857): Show c.401+9048_401+9049insGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAG ACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCA CCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112019	A A	ACACCTCC others(833): Show ACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCC TAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCA CCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCGTGAGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0021 a0001c0002t0008g0021	1	368	0.0027	840	c.401 others(857): Show c.401+9192_401+9193insCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGAC AACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACC TGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCC GTGAGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AFAP1_chr4_7753714_7944861	7864141	A A	ACCTTCCC others(833): Show ACCTTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACAC CTTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCT TCCCAACTTCCCATCACAACACATTCCCAACTTCCCATCACAACACTTTC CCAACTTCCCATCACAACACATTCCCAACTTCCCATCACAACACATTCCC AACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTCCCAA CTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTCCCAACT TCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTCCCAACTTC CCATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCC ATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCAT CACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCA CAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATGACA ACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAAC CCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCC ATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCCAT TCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACACATTC CCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACACATTCCC AACTTCCCATCACAACGCATTCCCAACTTCCCATCACAACG	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18994.hp1 HG02004.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0171 a0001c0003t0002g0183 a0001c0003t0002g0171 a0001c0003t0002g0183	2	318	0.0063	840	c.225 others(857): Show c.225+4480_225+4481insCGTTGTGATGGGAAGTTGGGAATGCGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGGGTTGT GATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGGGTTGTGA TGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATG GGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGG AAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAA GTTGGGAATGGGTTGTCATGGGAAGTTGGGAATGGGTTGTGATGGGAAGT TGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTG GGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGG AATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAA TGGGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGG TGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTG TTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTTGT GATGGGAAGTTGGGAAAGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGA TGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATG GGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGG AAGTTGGGAAGG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7864141	A A	ACCTTCCC others(833): Show ACCTTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACAC CTTCCCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCT TCCCAACTTCCCATCACAACACATTCCCAACTTCCCATCACAACACTTTC CCAACTTCCCATCACAACACATTCCCAACTTCCCATCACAACACATTCCC AACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTCCCAA CTTCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTCCCAACT TCCCATCACAACACCTTCCCAACTTCCCATCACAACACCTTCCCAACTTC CCATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCC ATCACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCAT CACAACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCA CAACCCATTCCCAACTTCCCATCACAACCCATTCCCATCTTCCCATGACA ACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAAC CCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCC ATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACCCAT TCCCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACACATTC CCAACTTCCCATCACAACCCATTCCCAACTTCCCATCACAACACATTCCC AACTTCCCATCACAACGCATTCCCAACTTCCCATCACAACG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0174 a0001c0003t0002g0174	1	318	0.0031	840	c.225 others(857): Show c.225+4480_225+4481insCGTTGTGATGGGAAGTTGGGAATGCGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGGGTTGT GATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGGGTTGTGA TGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATG GGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGG AAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAA GTTGGGAATGGGTTGTCATGGGAAGATGGGAATGGGTTGTGATGGGAAGT TGGGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTG GGAATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGG AATGGGTTGTGATGGGAAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAA TGGGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGG TGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTG TTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGTGTTGT GATGGGAAGTTGGGAAAGTGTTGTGATGGGAAGTTGGGAATGTGTTGTGA TGGGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATG GGAAGTTGGGAAGGTGTTGTGATGGGAAGTTGGGAAGGTGTTGTGATGGG AAGTTGGGAAGG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17			chr4	TogoVar
ASAP2_chr2_9201812_9410678	9406508	C C	CGTCTTCC others(833): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAATGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCAC TGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATG TGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	210	0.0048	840	c.31 others(851): Show c.3181_*3182insGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGT GACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGT GTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA GTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAATGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		831		chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(833): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0047 a0001c0003t0001g0047	1	391	0.0026	840	c.36 others(851): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1078446	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CATCGGGGGAGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCT ATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGT GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCT ATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGT GGCTGTGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	326	0.0031	840	c.44 others(851): Show c.4446_*4447insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGCCACAGCCACCCGGCACGGAGTCCCCATAGC CACAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAG TCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAG TCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCCTCAGCCTCC CCCGATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTGCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3376		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078446	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	326	0.0031	840	c.44 others(851): Show c.4446_*4447insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3376		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078446	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	326	0.0031	840	c.44 others(851): Show c.4446_*4447insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3376		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078446	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0125 a0001c0002t0003g0125	1	326	0.0031	840	c.44 others(851): Show c.4446_*4447insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3376		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078476	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	326	0.0031	840	c.44 others(851): Show c.4416_*4417insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3346		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078476	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0226 a0001c0001t0014g0226	1	326	0.0031	840	c.44 others(851): Show c.4416_*4417insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3346		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078476	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03834.hp2 HG01106.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0298 a0001c0001t0003g0083 a0001c0001t0003g0298	2	326	0.0061	840	c.44 others(851): Show c.4416_*4417insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3346		chr1	TogoVar
CABLES1_chr18_23130485_23265470	23218540	G G	GCTCCCGC others(833): Show GCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTT GCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGC CCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCC TGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTG CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0076 a0001c0003t0002g0076	1	278	0.0036	840	c.108 others(859): Show c.1088+4509_1088+4510insGTTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTT GCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGC CCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCC TGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTG CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CAPN11_chr6_44153820_44189401	44182166	T T	TCACACAC others(833): Show TCACACACACACACACACTCACATACAGACACAACCACACCACACACACA CACACACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACACATACAGACACAACCACACCACACAC ACACACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACTCACATACAGACACAACCACACCACACTCA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	460	0.0022	840	c.193 others(857): Show c.1939-765_1939-764insCACACACTCACATACAGACACAACCACA CCACACACACACACACACATACAGACACAACCACACCACACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACACATACACACT CACATACAGACACAACCACACCACACACACACACACATACAGACACAACC ACACCACACACACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(833): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTC CCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0082 a0003c0004t0003g0082	1	252	0.0040	840	c.-29 others(851): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CDH23_chr10_71391920_71820947	71688911	C C	CCAGGGGT others(833): Show CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAAC GGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGTAG AGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAG CCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGA GGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGG TGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAG CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCAGG TGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGG TGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAG CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGG TGGAGTCCAGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAG TCAAGTGCGGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGG GATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGG TGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAG TCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGTCAGG GGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0086 a0086	a0086c0083 a0086c0083	a0086c0083t0016 a0086c0083t0016	a0086c0083t0016g0147 a0086c0083t0016g0147	1	196	0.0051	840	c.205 others(859): Show c.2059+1206_2059+1207insTCAGGGGTGGTGGAGCCAGGGGTGGT GGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGC CAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGG ATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGT GGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGC CAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGG GTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGT GGAGCCAGGTGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGT CAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGG ATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGT GGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGT CAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGG ATGGTGGAGTCAAGTGCGGTGGACCCAGGGATGGTGGAGCCAGGGGTGGT GGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGC CAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACG GTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGT GGAGTCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGT CAGGGGTGGTGGAG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(833): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTT TGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18987.hp2 NA19085.hp2 HG02129.hp1 NA18987.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0026g0053 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0026g0053	3	336	0.0089	840	c.248 others(857): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGC TGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20337562	A A	ATGGATGG others(833): Show ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0002 a0026c0030t0002	a0026c0030t0002g0056 a0026c0030t0002g0056	1	236	0.0042	840	c.342 others(859): Show c.3423-4256_3423-4255insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356591	T T	TGAGGGGA others(833): Show TGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAG GTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACAC TGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGG GGTCATACTGCGAGTGGAGGTAGTCACACTGTGAGGGGAGGTGGTCACAC TGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp2 HG02280.hp1 others(4): Show HG00408.hp1 HG02056.hp2 HG02280.hp1 HG02683.hp2 HG02735.hp1 HG03942.hp1 NA18964.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0023c0044	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0023c0044t0001	a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0183 others(4): Show a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0006t0001g0167 a0002c0002t0001g0072 a0023c0044t0001g0058	7	236	0.0297	840	c.351 others(859): Show c.3514-3618_3514-3617insAGGGGAGGTGGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCAC ACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATA CTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAC TGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACA CTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGG AGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGA GGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACA CTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356591	T T	TGAGGGGA others(833): Show TGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAG GTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACAC TGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGG GGTCATACTGCGAGTGGAGGTAGTCACACTGTGAGGGGAGGTGGTCACAC TGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCGCACTGAGGGGAGGTGG TCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	236	0.0042	840	c.351 others(859): Show c.3514-3618_3514-3617insAGGGGAGGTGGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCAC ACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATA CTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAC TGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACA CTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGG AGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGA GGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACA CTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCGCACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89648069	G G	GACCCAGT others(833): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCAGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACA CCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	392	0.0026	840	c.253 others(855): Show c.253-739_253-738insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCTGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT GTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(833): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCTCTTCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCC ACCTCCTCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCC TCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCTCTTCCTCCTCCTCC CCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTC CCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCT CCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0223 a0001c0002t0003g0223	1	270	0.0037	840	c.162 others(861): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCCTCTTCCTCCTCC TCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTT CCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTC TTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCT CCTCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTC CTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL23A1_chr5_178232618_178595393	178525070	A A	AGGACCCG others(833): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0211 a0002c0003t0002g0211	1	236	0.0042	840	c.361 others(859): Show c.361+35611_361+35612insCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar

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Search Results (Total: 7053 hits)