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
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(829): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACC CACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCC ATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCC ACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCAT CCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTC TGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCC TATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTC CATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCATCC ACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATCCACCC ACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTCTATCC ACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCC ACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATCTACCC ACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACCCTATC TATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCATCCATC CATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTATCTATC CACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	258	0.0039	836	c.113 others(855): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCC CCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCC ACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCC ACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCAC CCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTT CTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCAT CCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTAT CTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACC CACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCACCCACC CACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCATCCATC CATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCATCCATC CCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTATCCACC CACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCACCTACA CCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCATCCAC CCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTATCCAC CCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCATCCAT CCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(829): Show ACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACC CACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCC ATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCC ACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCAT CCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTC TGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCC TATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTC CATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCATCC ACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATCCACCC ACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTCTATCC ACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCC ACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATCTACCC ACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACCCTATC TATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCATCCATC CATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTATCTATC CACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	258	0.0039	836	c.113 others(855): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCCCCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCC CCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCC ACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCC ACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCAC CCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTT CTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCAT CCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTAT CTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACC CACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCACCCACC CACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCATCCATC CATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCATCCATC CCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTATCCACC CACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCACCTACA CCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCATCCAC CCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTATCCAC CCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCATCCAT CCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(829): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAAAGA GGACAGTCCTGGTGTGTAACCTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02886.hp2 HG01496.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0019 a0001c0001t0015 a0001c0001t0019	a0001c0001t0015g0006 a0001c0001t0019g0109 a0001c0001t0015g0006 a0001c0001t0019g0109	2	112	0.0179	836	c.142 others(855): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGG TGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTA ACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTC CTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATG CAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTGGGGC TGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1627945	A A	ACGGGGGT others(829): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGC GGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0049 a0001c0007t0002g0049	1	352	0.0028	836	c.299 others(851): Show c.299-520_299-519insAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCTCTG others(829): Show CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCC CACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTGTG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTC CCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	370	0.0027	836	c.-13 others(847): Show c.-1314_-1313insAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAG GGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACACAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGG GTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THEG_chr19_356747_381026	377417	C C	CTCCGTGC others(829): Show CTCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCC CCCTCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCA GCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCTCCG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	370	0.0027	836	c.-14 others(847): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACGGAGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGA GGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGA GGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTGGGGCACG GA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(829): Show TCTCCCCTCCCCTCCTCCCTCCCCTCCTCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCT CCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCC CTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCT CCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCC TCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCT CCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCC TACCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCC TCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTT CCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCT CCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0017 a0001c0004t0002g0017	1	114	0.0088	836	c.-25 others(855): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCCTCCCTCCCCTCC TCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCT CTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTC TCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCC CTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCC CTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCC TCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCT CCCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTC TCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTA TCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCC CTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACGTA others(829): Show CATACGTAAATGTATATATGTATACATACATGTATTATACATACGTAAAT GTATATATGTATACATACATGTATTATACATACGTAAATGTATATATGTA TACACACATGTATTATACATACGTAAATGTATATATGTATACACACATGT ATTATACATACGTAAATGTATATATGTATACATACATGTATTATACATAC GTAAATGTATATATGTATACATACATGTATTATACATACGTAAATGTATA TATGTATACATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATACATACATGTATTAT ACATACGTAAATGTATATATGTATACATACATGTATTATACATACGTAAA TGTATATATGTATACATACATGTATTATACATACGTAAATGTATATATGT ATATATACATGTATTATACATACGTAAATGTATATATGTATATATACATG TATTATACATACGTAAATGTATATGTATATATACATGTATTATACATACG TAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATAT ATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATATA CATGTATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTA TATATACATTATACATACGTAAATGTATATATATACATTATACATACGTA AATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0275 a0001c0001t0010g0275	1	388	0.0026	836	c.-23 others(853): Show c.-23+2684_-23+2685insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATACATTTACGTA TGTATAATACATGTATATATACATATATACATTTACGTATGTATAATACA TGTATATATACATATATACATTTACGTATGTATAATACATGTATGTATAC ATATATACATTTACGTATGTATAATACATGTATGTATACATATATACATT TACGTATGTATAATACATGTATGTATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT GTATACATATATACATTTACGTATGTATAATACATGTATGTATACATATA TACATTTACGTATGTATAATACATGTATGTATACATATATACATTTACGT ATGTATAATACATGTGTGTATACATATATACATTTACGTATGTATAATAC ATGTGTGTATACATATATACATTTACGTATGTATAATACATGTATGTATA CATATATACATTTACGTATGTATAATACATGTATGTATACATATATACAT TTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
ZBTB42_chr14_104796101_104809712	104808110	G G	GAGCACCC others(829): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGC CGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCAC CCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCC CAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAG GCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGC ACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTC CCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACA AGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACA GCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	836	c.56 others(847): Show c.5644_*5645insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACC CCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCC AGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGG CCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCA CCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCC CCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAA GGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAG CACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACT CCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAAC AAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAG AGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGA CTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATA ACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTAC AC	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3399		chr14	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(830): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATATATCATATATAAAAATTTATATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	837	c.-10 others(848): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATATAAATTTTTATATATGATATATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATGATATATAAATATAAATTTTTATATATGATATA TAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGA TATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTT ATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAAT TTTTATATATTTATATTTATGATATATAAATATAAATTTTTATATATTTA TAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(830): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGAGG GAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGG GGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAG GGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAG GAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	837	c.51 others(848): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCT CCTCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCCCTCCCCCCTCCC CTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCGCCC TCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCT CCCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCT CCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCC TCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCCCCCTCCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCC TCCCCCTCCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTC CCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1078506	G G	GGCTGAGG others(830): Show GGCTGAGGCTATGGGGGGACTCCGTTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG GCTATGGGGACTCCGGGAGGCATGGGGACTCCGTGGGGGAGGCTGAGGCT ATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGGACTCCGTCGGGGG AGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCAGTGGGGGGGAGGCTGAG GCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGGCTATGGGG GACTCCGTGAGGGTGGCCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGG CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGTGGCTG TGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGGACTCCGTG GGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	326	0.0031	837	c.43 others(848): Show c.4386_*4387insGTCCCCCCCACGGAGTCCCCATAGCCTCAGCGTC CCCCCACGGAGTCCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATA GCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGG AGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCT CCCGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATA GCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGG AGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCT CCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATA GCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGGCCACCCTCACGG AGTCCCCCATAGCCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCCACTGGAGTCCCCATAGCCTCAGCCTCCCGGC ACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCA GCCTCCCCCGACGGAGTCCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCC CCATAGCCTCAGCCTCCCCCACGGAGTCCCCATGCCTCCCGGAGTCCCCA TAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCAACGGAGTCCCCCCATAGCCTC AGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3316		chr1	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(830): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGA GGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGG GACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGG AGGGAGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGG AGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACG GAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01175.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0257 a0002c0002t0001g0355 a0002c0002t0001g0196 a0002c0002t0001g0257 a0002c0002t0001g0355	3	410	0.0073	837	c.465 others(852): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCG CCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCG TCCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCT CCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCC GTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCC CTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGT CCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CCDC6_chr10_59783747_59911556	59882095	G G	GGGAGAAG others(830): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC AGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGAAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0100 a0001c0005t0004g0100	1	288	0.0035	837	c.303 others(856): Show c.303+24026_303+24027insGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC GCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTTCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCT CCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(830): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGT TTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0128 a0001c0001t0034g0128	1	336	0.0030	837	c.248 others(854): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGG AGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20357454	G G	GAGGGGAG others(830): Show GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGAT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTC ATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTA GTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGT GAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTTGAGGGGAAGTG GTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGA GGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAG GGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG03195.hp1 HG02572.hp2 HG02896.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 a0001c0001t0001 a0001c0003t0004 a0002c0002t0001	a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136 a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136	3	236	0.0127	837	c.351 others(856): Show c.3514-2756_3514-2755insAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACT GCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAG GTGGTCACACTTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACT GTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACAC TGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGA GGTAGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361434	A A	AGTGGGGA others(830): Show AGTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGAGCAGGGGAGGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGG GGAGCTGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGGA GGAGGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGAGGAGGAGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0129 a0001c0001t0014g0129	1	168	0.0060	837	c.-27 others(846): Show c.-270_-269insCTCCTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTG CTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCTCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCA GCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCAGCT CCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCCTCCCCTGCTCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCA C	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		86		chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(830): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCT CTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	270	0.0037	837	c.162 others(858): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCT CTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCT TCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTC CCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(830): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCT CTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0152 a0001c0003t0010g0152	1	270	0.0037	837	c.162 others(858): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCT CTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCT TCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTC CCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(830): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGTGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGG TAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCC CTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0125 a0003c0005t0003g0125	1	236	0.0042	837	c.294 others(854): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGG CTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAG CACCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGG GCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAAC CAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(830): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCC CTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0128 a0004c0006t0003g0128	1	236	0.0042	837	c.294 others(854): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGC CATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGG CTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGG GCATTACCCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAAC CAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(830): Show GGGGAAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	344	0.0029	837	c.85- others(854): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCTTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCC TGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGCA others(830): Show AGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGG GGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAAGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0202 a0003c0012t0001g0202	1	344	0.0029	837	c.85- others(854): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(830): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02698.hp2 HG02897.hp1 others(6): Show HG00280.hp1 HG02698.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 NA19030.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0004 a0003c0004t0001 a0003c0004t0004	a0003c0004t0001g0009 a0003c0004t0001g0047 a0003c0004t0001g0052 others(4): Show a0003c0004t0001g0009 a0003c0004t0001g0047 a0003c0004t0001g0052 a0003c0004t0001g0160 a0003c0004t0001g0163 a0003c0004t0004g0013 a0003c0004t0004g0186	9	418	0.0215	837	c.737 others(852): Show c.737+179_737+180insCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(830): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGTGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGA GGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG GGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGG GAGGGGAGGGGGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGA AGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG GGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAG GGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGG AGGGGAAGGGGGGAGACAGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0202 a0001c0001t0008g0202	1	216	0.0046	837	c.923 others(856): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCC CTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTC CCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCC TCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCC CCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCACTCCCCTCCCCCTCCCACTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCC ATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCT TCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(830): Show CCCCTCCCACAGCCGGATCCCAGGATGGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCAC CCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCA CAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCC CACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATC CCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCAC CCACCCACCCCTCCCACAGCCGGATCCCAGGATGGCACCCACCCACCCCT CCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA CCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	837	c.86- others(854): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTG GGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGG CTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCC GTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGGTGGGTGGGTGCCATCCTGGGATCCGGCTGTGGGAG GGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGT GCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGA TCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGG AGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGG GTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGG GATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTG GGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGT GGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCC TGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCATCCTGGGATCCGGCT GTGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(830): Show AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGA GGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGGGG AGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGG GAGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGAGGGAGGGAGGAGGAGGGAGAGGGAGGAGGAGGAGGGGGA GGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAGGGG GAGGGAGGAGGGGGAGGGAGGAGGAGGGGGGAGGGAGGAGGAGGGGGGAG GGAGGAGGGGGAGGGAGGAGGAGGGGGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0051 a0051	a0051c0158 a0051c0158	a0051c0158t0001 a0051c0158t0001	a0051c0158t0001g0097 a0051c0158t0001g0097	1	252	0.0040	837	c.118 others(856): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCCCCCTCCTCCTCCC TCCCCCTCCTCCCTCCCCCCTCCTCCTCCCTCCCCCCTCCTCCTCCCTCC CCCTCCTCCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCCCTCCTCCCT CCCCCTCCTCCCTCCCCCTCCTCCTCCTCCCTCTCCCTCCTCCTCCCTCC CTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCCTCCTC CCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCC CTCCTCCCTCCTCCCCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTC CTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(830): Show TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	250	0.0040	837	c.-10 others(856): Show c.-107+5814_-107+5815insCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCC TCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCC CTGCTCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63492040	T T	TAGAAGGA others(830): Show TAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGAGA GATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGAGAAGGA TGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGATGGATG GGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTGGGTGGA TGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGATG GATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATGGATGCA TGGATGGATGGATGGAGAGGTGGGTGGACGGATGGATGGATTGGGAGGTG GGTAGATGGGTGGATGGACAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGGTGGATGGATGGATGGGGAGGTGGATGGATGGATGGTTAGATGGGGA GGTGGGTGGATGGGTGGATGGACAGAAGGATGGATGGGTAGGGAGGTAGG TGAGTGGATGGATGGATGGGGAGATGGATGGATGGATAGAGAGAAGGATG GATGGGTGGGACAATGGATGGATGGATGGATAGAAGGATGGACGGGTGGG GAGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGGTGGGGA GGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATGGATGGA AGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGGATGTACA GAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGATGGATGGA TAGATAGAAGGATGGATGGGTGGGACAATAGATGGATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp2 HG02895.hp2 others(4): Show HG01361.hp2 HG02280.hp2 HG02895.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0138	7	374	0.0187	837	c.772 others(854): Show c.772+1096_772+1097insCATCCATCTATTGTCCCACCCATCCATC CTTCTATCTATCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCA TCCATCCTTCTGTACATCCATCCATCCATCCATCCACCCACCTCCCTATC CATCCATCCTTCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTA TCCACCCACCTCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATC CATCCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGT CCCACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATC CATCCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCA TCCACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATC CATCCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCA CCCATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCTCCATC CATCCATCCATGCATCCATCCATCCATCCATCCACCCACCCACCTCCCCA CTCATCCATCCATCCACCCACCCACCTCCCCACCCATCCATCCTTCTCTC CATCCATCCATCCACCCACCTCTGCATCCATCCATCCATCCACCCGCCCA CCTCCCCACCCATCCATCCATCCACCCATCCACCCACCCACCCACCTCCC CACCCATCCATCCTTCTCTCCATCCATCCATCCATCCATCCATCTATCCA TCTATCCATCTCTCCATCCATCCACCCACCCACCCACCTCCCCACCCATC CATCCTTCT	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(830): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG02738.hp1 others(1): Show HG01981.hp1 HG01981.hp2 HG02738.hp1 HG03654.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0036 a0002c0001 others(1): Show a0001c0002 a0001c0036 a0002c0001 a0004c0005	a0001c0002t0001 a0001c0036t0002 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0036t0002 a0002c0001t0001 a0004c0005t0001	a0001c0002t0001g0088 a0001c0036t0002g0042 a0002c0001t0001g0103 others(1): Show a0001c0002t0001g0088 a0001c0036t0002g0042 a0002c0001t0001g0103 a0004c0005t0001g0148	4	208	0.0192	837	c.282 others(856): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(830): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	208	0.0048	837	c.282 others(856): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCT TGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(830): Show TTCCCTCCCCTCTCATCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCTTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01358.hp1 others(8): Show HG00735.hp2 HG01099.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG02109.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp2 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 others(6): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 a0001c0005t0016 a0001c0007t0002 a0001c0007t0015 a0001c0007t0039 a0001c0007t0050	a0001c0005t0001g0101 a0001c0005t0002g0099 a0001c0005t0004g0038 others(8): Show a0001c0005t0001g0101 a0001c0005t0002g0099 a0001c0005t0004g0038 a0001c0005t0004g0075 a0001c0005t0010g0024 a0001c0005t0016g0039 a0001c0007t0002g0132 a0001c0007t0015g0123 a0001c0007t0015g0127 a0001c0007t0039g0131 a0001c0007t0050g0129	11	138	0.0797	837	c.123 others(858): Show c.1237-15754_1237-15753insTCCCCTCTCATCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCTTCACCTCTCTTCCCCTCCCCTCTCTTCCCCT CTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(830): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCTCCTCCTCTCCTC TCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTACCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0030 a0001c0006t0030	a0001c0006t0030g0009 a0001c0006t0030g0009	1	138	0.0073	837	c.123 others(858): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCTTCCTCTGCCCTCCCTTCC CCTCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTACCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCT CTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(830): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCTCCTCCTCTCCTC TCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02922.hp2 others(3): Show HG02145.hp2 HG02451.hp1 HG02922.hp2 HG03453.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0040 a0001c0001t0046 a0001c0002t0002	a0001c0001t0001g0085 a0001c0001t0002g0092 a0001c0001t0028g0091 others(3): Show a0001c0001t0001g0085 a0001c0001t0002g0092 a0001c0001t0028g0091 a0001c0001t0040g0090 a0001c0001t0046g0086 a0001c0002t0002g0122	6	138	0.0435	837	c.123 others(858): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCTTCCTCTGCCCTCCCTTCC CCTCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCT CTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FHL5_chr6_96558128_96623626	96607286	T T	TTCAAAGT others(830): Show TTCAAAGTATTTTTTTTTTTTTTTTAAATGAAAATCTATGAAGAAATTTA ATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTAAAGAGTC AACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTGTTTGTCC TGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGATAAAAATC TTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAGGGGAGGA AATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGAATGGAGA AAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCTACTGATA CAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATGAAGTGGT CAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACTCATGTGT GTATATGTATGTGTGTACACACACACACACACATATATATGAAGGTTAGT GTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGAATATTTA ACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGTCCGAGCA ATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATGTGTTTGC TGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACACATATGT TTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGGGCTATTT CCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCGACAATCT GGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp2 HG03041.hp2 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0285 a0005c0006t0004g0286 a0005c0006t0004g0285 a0005c0006t0004g0286	2	378	0.0053	837	c.504 others(854): Show c.504+1229_504+1230insTTTTTTTTTTAAATGAAAATCTATGAAG AAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTA AAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTG TTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGAT AAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAG GGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGA ATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCT ACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATG AAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACT CATGTGTGTATATGTATGTGTGTACACACACACACACACATATATATGAA GGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGA ATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGT CCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATG TGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACA CATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGG GCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCG ACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGGTCAAA GTATTTTTT	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(830): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	204	0.0049	837	c.240 others(856): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCC AGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTC ATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAG AGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(830): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	204	0.0049	837	c.240 others(856): Show c.240+55587_240+55588insCATTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCC AGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTC ATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAG AGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GPR173_chrX_53043789_53085615	53073918	T T	TATATTTA others(830): Show TATATTTATATTTATTTTTATATATATAAATATATATATTTATATATATA TAAATAAATATAAATATATATATTTATATGTATATATATAAATATATATA TTTGTATATATATAAATATATATATTTATATATATATATTTTATACATAT AAATATATATTATAAATATATATTTATACATATAAATATATATTATAAAT ATATATATTTATATTTATATATATTATATATAATTATATATAAATGTATA TTTATATATATTTATATATAAATGTATATTTATATATAAATATATATAAA TAATACATTTATATATATATAAAATATATTATATATAAATATACATGTAT ATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATAT AAATATACATGTATATTTATTCATATATAAATATATATAAATATACATGT ATATTTATTCATATATAAATATATATAAATATACATGTATATTTATAAAT ATTATATATGAATAAATATACATGTATATTTATATATATTTATATATGAA TAAATATACATGTATATTTATATATATTTATATATGAATAAATATACATG TATATTTATATATATATATATGAATAATATACATGTATATTTATATATAT TTATATATGAATAAATATACATGTATATTTATATATATATTTATAATATA CATGTATATTATATATTTATATATGATATAATATACATGTATATTATATA TATAAAGTATACATTTATATATAAATATATAAATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0198 a0001c0003t0002g0198	1	208	0.0048	837	c.-97 others(854): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATATATATTATATAT AATTATATATAAATGTATATTTATATATATTTATATATAAATGTATATTT ATATATAAATATATATAAATAATACATTTATATATATATAAAATATATTA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATAAATATTATATATGAATAAATATACATGTATATTT ATATATATTTATATATGAATAAATATACATGTATATTTATATATATTTAT ATATGAATAAATATACATGTATATTTATATATATATATATGAATAATATA CATGTATATTTATATATATTTATATATGAATAAATATACATGTATATTTA TATATATATTTATAATATACATGTATATTATATATTTATATATGATATAA TATACATGTATATTATATATATAAAGTATACATTTATATATAAATATATA AATATACAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(830): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACC TCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCAC CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCACCACCAC CACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCATCA CCTCCACCACCACCACCACCACCACCACCATCTCCTTCAACACCACTACC CCCACCACTACCACCATCACCTCCACCACCACCACCATCTCCTTCAACAC CACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACC TCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCAC TACCCCCACCACTATCACCATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	274	0.0037	837	c.804 others(854): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTG ATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGG TAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTG GTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGA TAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTG GTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAA GGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAG TGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAG ATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGA AGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGG TGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(830): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATG GAATATATATATGGAATATATACATGGAATATATGTATATGGAATATATA CATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAA TATATACATGGAATATATATATGGAATATATACATGGAATATATATATGG AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAT ATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAAT ATATATATATAGAATATATACATGGAATATATATATGGAATATATACATG GAATATATATATATGGAATATATACATGGAATATATACATGGAATATATA CATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATA TATATATGGAACATATACGGAATATATATATGGAATATATATACGGAATA TATATATATGGAATATATATACGGAATATATATATGGAATATATATACGG AATATATATATATGGAATATATATACGGAATATATATATATGGAATATAT ATACGGAATATATATATGGAATATATATACGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	323	0.0031	837	c.-27 others(848): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATATGTGGAATATATATATGGAATATATATATATG TGGAATATATATATGGAATATATATATGGAATATATACATGGAATATATG TATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAA TATGTGTATATGGAATATATACATGGAATATATATATGGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATATGGAATATAT ACATGGAATATATATATATGGAATATATACATGGAATATATATATATGGA ATATATACATGGAATATATATATATAGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TACATGGAATATATACATGGAACATATACATGGAATATATACATGGAACA TATACATGGAATATATATATATGGAACATATACGGAATATATATATGGAA TATATATACGGAATATATATATATGGAATATATATACGGAATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATATATGGAATATATATACGGAAT ATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(830): Show CCTCCTCCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGT CCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCC TCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCCCTCCTCCTCCCCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCT CCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	252	0.0040	837	c.10- others(854): Show c.10-16129_10-16128insCCCCCACCCACCCCTCCCCTCTCCTCCC CCCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCT CCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCCCTCCTCCTCCCCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCC CCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCC CTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCC CACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(830): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCC TGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGG GGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTG AGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGG CTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCC TGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGG GGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACC CCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGG CCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCC TGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGG GGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACC CCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAG CCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG02683.hp1 others(5): Show HG01175.hp1 HG01358.hp2 HG02683.hp1 HG02683.hp2 HG03490.hp1 HG03492.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0020 a0001c0028 others(2): Show a0001c0001 a0001c0020 a0001c0028 a0002c0002 a0004c0016	a0001c0001t0001 a0001c0001t0015 a0001c0001t0047 others(4): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0047 a0001c0020t0032 a0001c0028t0001 a0002c0002t0001 a0004c0016t0015	a0001c0001t0001g0092 a0001c0001t0015g0084 a0001c0001t0015g0085 others(5): Show a0001c0001t0001g0092 a0001c0001t0015g0084 a0001c0001t0015g0085 a0001c0001t0047g0083 a0001c0020t0032g0221 a0001c0028t0001g0220 a0002c0002t0001g0082 a0004c0016t0015g0094	8	330	0.0242	837	c.430 others(852): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGG TGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCT CTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCCT GATGGTGGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACC CCCTCACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGTTC CTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCGGCCCCCA CCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGT CCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(830): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTGATGATGGGGGT GGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGTGATGACGGTGATG TGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAG GGGTGATGATGGTAGGGGTGATGATGGTAGGGTGGGGGTGATGATGGTGG GGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGGTGA TGACGGTGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGATG GTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGGTGATGACGGTG ATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGATGGTGGGGGT AATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0071 a0071	a0071c0080 a0071c0080	a0071c0080t0001 a0071c0080t0001	a0071c0080t0001g0054 a0071c0080t0001g0054	1	186	0.0054	837	c.956 others(854): Show c.956+1962_956+1963insCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATTACCCCCACCATCATCACCCCCACCGCCATCACCGTCATCA CCCCCACCATCACCGTCATCACCCCCCACCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TTACCCCCACCATCATCACCCCCACCGCCATCACCGTCATCACCCCCACC ATCACCGTCATCACCCCCCACCATCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACCCCCACCGTCATTACCCCCACCATCATCACCCTCACC ATCATCACCCCCACCATCATCACCCCCACCCTACCATCATCACCCCTACC ATCATCACCCCTACCATCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCATCACCGTC ATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCA TCACCCCCCCACCCCCATCATCACCGTCATCACCCCCAGCCCCACCGTCA TCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCC ACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(830): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATATTTTTATATATATT TATATATATTTTTATATATATTTATATATATTTATATATAGTTATATATA TTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATA GTTATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATT TTTATATATATTTTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATTTATATATATAGTTATATATTTATATATA TTTATATATATTTATATATATATTTATATATTTATTTATATATATTTATA TATGTATTTATATATATTTATATATATTTATATGTATTTATATATATTTA TATATATTTATATATATATATAAATATATTTATATATATAAATATAAATA TTTATATATATTTATATATATTTATATATATATTTATGTATATTTATATA TATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	260	0.0039	837	c.125 others(854): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATATTTTTATATATATTTATATATATTTTTATATATATTTATATATATT TATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGT TATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATA TAGTTATATATATATATTTTTATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATATTTTTATATATATAGTTATATATATATTTATATATATA GTTATATATTTATATATATTTATATATATTTATATATATATTTATATATT TATTTATATATATTTATATATGTATTTATATATATTTATATATATTTATA TGTATTTATATATATTTATATATATTTATATATATATATAAATATATTTA TATATATAAATATAAATATTTATATATATTTATATATATTTATATATATA TTTATGTATATTTATATATATTTATATATATATTTATGTATATTTATATA TGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610453	T T	TGCGGGTG others(830): Show TGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG GTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGT GAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGG TGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTG AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGGGG GTGAGGGTGTTGACGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGA GCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGTGGGTGCGGG TGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG GTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGC GAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAG CGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	260	0.0039	837	c.717 others(854): Show c.717-2810_717-2809insCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGG AGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTG GTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGT GCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGG TGCTGATGGAGCGGGTGGGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGT GCTGATGGAGTGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTG AGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGC AGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATG GAGCGGGCG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GGGAGGTT others(830): Show GGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTACGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGG AGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	274	0.0037	837	c.224 others(856): Show c.2242-4816_2242-4815insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCGTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCT CCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MLPH_chr2_237482251_237560322	237545024	T T	TGGGGACA others(830): Show TGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAATGGGCACGGTAGTGAG TGGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGG TGAGTGGGGCACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGAGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGCA CAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACA GTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GGGACAGTGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGA GTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAG TGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTTGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0120 a0006c0006t0003g0120	1	286	0.0035	837	c.154 others(856): Show c.1540-1578_1540-1577insACAGTGGTGAGTTGGGGGACAGTGGT GAATGGGCACGGTAGTGAGTGGGGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGGACAGTGGTGAGTGGGGCACAGTGGTGAGTGGAGGGACA GTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG GACAGTGGTGAGTGGGGCACAGTGGTGAGTGGGGGGGACAGTGGTGAGTG GGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTT AGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGAC AGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGG GGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTT AGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTTAGTGGGG GGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGAGGACAGTGGTGAGTTGGGGGACAGTGGTGAATGGGCACGGTA GTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(830): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAG GGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGG AGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	272	0.0037	837	c.250 others(852): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTC CCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCC ACTCCCCTCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCT CCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCC CTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCC CCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCC TTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCC GCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCC GCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTT CCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(830): Show TCTGCTCTCCCCTCCCCTCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCCTCTCTTCCCTCCCTCCTC TCTCCCTCCCTCCCCTCTCCCCTCCCCGTCTCCCTCCCGTCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCCTCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCTCCCCTCCCCTCT CCCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCTCCTC CCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCTC CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCTCCCCTCCCCCTCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCTCCCTCCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCC CTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCCCATCCCCTCCTCCCCTCCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	140	0.0071	837	c.114 others(856): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCT CCCTCTCTTCCCTCCCTCCTCTCTCCCTCCCTCCCCTCTCCCCTCCCCGT CTCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCTCCCCTCCC CCTCCTCCTCCCCTCCCCTCTCCCCTCCCCTCCTCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCCTCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCT CCTCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCCC TCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC TCCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCT CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCT CCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCCTCCCC CCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(830): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCC CCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCC CTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01993.hp1 HG01934.hp2 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0110 a0001c0002t0001g0102 a0001c0002t0001g0110	2	140	0.0143	837	c.114 others(856): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC TCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCC TCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCT CCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCC CCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 7053 hits)