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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SRXN1_chr20_641615_658200	642230	T T	TGTGGTGG others(566): Show TGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	422	0.0024	573	c.64 others(584): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(566): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATTATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATTATATATTATATAACTATATATT ATATATATATATATTATATATATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATATATATATTATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0236 a0001c0001t0012g0236	1	268	0.0037	573	c.71 others(584): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATTATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATTATATATT ATATAACTATATATTATATATATATATATTATATATATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATATATATATTA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
TDRD12_chr19_32714767_32834580	32729359	G G	GGGTATCT others(566): Show GGGTATCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACG GAGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGT GCCTGGCCTAAATTTTTATTTTTCATTTATGAAATTTACGTTTTCCACAG CTTGTGTGTGTGTATCTATATCTATACATGTATAAATAGATACATATCTA TATACATATAGAGTTTCCATTTCTTAAGTGAGATTCTTTTGTTTTCAACT CACTCTAACCATCTCATCTTTAAGTTCTGTATTTATAATAGCTGTTTTTA AGTCCTCGCCTGTTAATTCCAATATCTGGGTATCTTGGGTTCACTTTCTG GTGACTACTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGT GAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCACCACCCGGTTTCACACCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01261.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG01261.hp1 NA20805.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0015 a0003c0002t0002 a0003c0002t0015	a0003c0002t0002g0001 a0003c0002t0002g0013 a0003c0002t0015g0052 a0003c0002t0002g0001 a0003c0002t0002g0013 a0003c0002t0015g0052	4	380	0.0105	573	c.25- others(588): Show c.25-2261_25-1689dupGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCATGAGCCACCGTGCCTGGCCTAAATTTTTATTTTTCATTTATGAAAT TTACGTTTTCCACAGCTTGTGTGTGTGTATCTATATCTATACATGTATAA ATAGATACATATCTATATACATATAGAGTTTCCATTTCTTAAGTGAGATT CTTTTGTTTTCAACTCACTCTAACCATCTCATCTTTAAGTTCTGTATTTA TAATAGCTGTTTTTAAGTCCTCGCCTGTTAATTCCAATATCTGGGTATCT TGGGTTCACTTTCTGGTGACTACTTTTTCTTTTTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTGTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCACCCGGTTTCACAC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTATCTGCCA CCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCATCGT GTTAGCTAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC	TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr19	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(566): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGAT CACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAG TCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACAC ATCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTG ACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp1 HG02040.hp2 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0035 a0001c0002t0001g0036	2	392	0.0051	573	c.228 others(592): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACT GTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGAT CGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376741	T T	TCTGTGCC others(566): Show TCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTC CCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACC CAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0036 a0006c0036	a0006c0036t0001 a0006c0036t0001	a0006c0036t0001g0354 a0006c0036t0001g0354	1	370	0.0027	573	c.-77 others(582): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGA GAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGG GGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCACA CAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGT GGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
TMEM163_chr2_134450759_134724000	134608110	A A	AAGGACAG others(566): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCTTGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAA CTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAG GACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTACTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	222	0.0045	573	c.323 others(592): Show c.323-56020_323-56019insCCTTTTCACCAGTACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTT CTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTT TTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTCG GGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCA GCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCAAGGTCTG TCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CTGGGGTT others(566): Show CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAG GGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	466	0.0022	573	c.48 others(584): Show c.4881_*4882insCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCTTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCC TAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTGGC CTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930711	A A	AGGGTAGG others(566): Show AGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA19079.hp2 NA18955.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	2	466	0.0043	573	c.48 others(584): Show c.4879_*4880insGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCC TTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCT GGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4658		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(566): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATATACATTATACATACGTAAATGTATATATAT ACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	388	0.0026	573	c.-23 others(590): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTATA CATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATA ATACATGTATATATACATTATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT GTATAATACATGTATATATACATATATACATTTACGTATGTATAATACAT GTATATATACATATATACATTTACGTATGTATAATACATGTATATATACA TATATACATTTACGTATGTATAATACATGTATATATACATATATACATTT ACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	140156972	A A	AAAGCCTC others(566): Show AAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTC CCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAG CCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTT TCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATTCAGA AGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTT TTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCA GAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCC CTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATTC AGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTC CCTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATT CAAAAGCCTCCCTTTTCCATTCAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	98	0.0102	573	c.255 others(594): Show c.2556+64486_2556+64487insCTGAATGGAAAAGGGAGGCTTTTG AATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAGG GAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTCT GAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAG GGAGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTC TGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTTGAATGGAA AAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCT TCTGAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGA AAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGG CTTTTGAATGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTTGAA TGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGG GAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIML1_chr4_188134441_188152743	188152094	G G	GTGAGAAG others(566): Show GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAA GTGAGAGTGGGGGTTGAGAAGGGAGTGAGAGAGAGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGGGAGAGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	228	0.0044	573	c.47 others(584): Show c.4722_*4723insTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAG TGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAG TGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGAGTGAGAGAGAG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4352		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152121	A A	AGAAGGGG others(566): Show AGAAGGGGAGTGAGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAG AAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAA GTGAGAGTGGGGCTGAGAAGGGGGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTG AGAGAGAGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGGAAGGGGAGTGAGAGTGGGGGGT GAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGGGAGAGAGGGGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	228	0.0044	573	c.47 others(584): Show c.4749_*4750insGAAGGGGAGTGAGAGTGGGGATGAGAAGGGGAGT GAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAG GGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGAAGTGAGAGTGGGGG TTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGGAAGGGGA GTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGTTGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4379		chr4	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(566): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCC CCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTT CTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCT TCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0123 a0002c0003t0002g0123	1	334	0.0030	573	c.657 others(588): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VGLL4_chr3_11551069_11648915	11599587	C C	CGGCTCAC others(566): Show CGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GGCTTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTC GGATTACAGGCGTGAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTT TTAAGACAGAGTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGC CGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAGACAGAGTCTCAGCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0284 a0001c0001t0034g0284	1	388	0.0026	573	c.272 others(590): Show c.272+2245_272+2246insAGCTGAGACTCTGTCTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTA ATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTGCCCGGCCGACTCTGTCTTAAAAAA AAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCGAGC ACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGAAGCCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAACTTGGAGTGAGCC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(566): Show GCTCCGACTCCCACATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGTTG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA GAGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0277 a0002c0003t0002g0277	1	388	0.0026	573	c.272 others(590): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCAAC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGAC TCTGTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAA GAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAATGTGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(566): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTTTAAGACAGAG TCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTG GCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA GAGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02293.hp2 HG02630.hp1 others(3): Show HG02056.hp2 HG02293.hp2 HG02630.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0006g0090	6	388	0.0155	573	c.272 others(590): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAA GAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(566): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATAAATAATATATTATATATTATAAA TAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18747.hp1 HG00558.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0097 a0001c0001t0019 a0001c0001t0097	a0001c0001t0019g0162 a0001c0001t0097g0068 a0001c0001t0019g0162 a0001c0001t0097g0068	2	302	0.0066	573	c.-1- others(590): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATAAATAATA TATTATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(566): Show ATATATATCATATATGTGGTATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGATATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATACGTGATATATATCATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATGTGATATATATGATATATGT GATATATATCATATGTGATATATATGATATATATCACATATATATGATAT ATATCACATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	350	0.0029	573	c.-34 others(584): Show c.-3475_-3474insTATATATCATATATGTGGTATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATATGATATATAGCATATGTGATATATATCATA TATATCACATATGCTATATAGCATACGTGATATATATCATATATATCACA TATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTA TAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTGAT ATATATGATATATGTGATATATATCATATGTGATATATATGATATATATC ACATATATATGATATATATCACATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ABCC1_chr16_15944616_16148053	15999862	C C	CCTTCCTT others(567): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCCT TTCCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0227 a0001c0003t0008g0227	1	249	0.0040	574	c.49- others(589): Show c.49-7954_49-7953insCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTTCTTTTCTTTTCCTTTCCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(567): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGG AGGAGGGAGGAGGAGGGAGGAGGGAGGAAGGGAAGAGGAGGAGGGAGGGA GGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGATGGGAGGAGGGA GGGAGGAGGGAGGAAGGGAGGGAGGAGGGAGGAAGGGAAGGAGAGAGGAG AAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGG ATGGGAACAGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACG TAGGAAGGAAGGAGGAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGA AGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGAGGGAGGA AGGGAAGAAGGAGGGGAGAGGAAGAGCAGGAGGGAAGGTAAGGAGGGAGG AGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGGGGAGGGAGGA TGGTGGAGGGAGGGGAGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	366	0.0027	574	c.-50 others(585): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGA GGAAGGGAAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAAGGGAAG AGGAGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAG GGATGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGAGGGAGGAAG GGAAGGAGAGAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAA AATGGAGGAAGGAGGATGGGAACAGGGAGGGAGAGAAGGAGGAAGGAAGG AGGGAAGGAGATACGTAGGAAGGAAGGAGGAAAAGGAAGAGAGAAAGGGA AGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGA GGGGAGGAGGGAGGAAGGGAAGAAGGAGGGGAGAGGAAGAGCAGGAGGGA AGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGA GGAGGGGAGGGAGGATGGTGGAGGGAGGGGAGGGGGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(567): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATAAATATATAAAAATTTATATTTATATATCATAAA TATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATAT ATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	574	c.-10 others(585): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATA TATAAATATAAATTTTTATATATTTATATTTATGATATATAAATATAAAT TTTTATATATTTATATTTATGATATATAAATATAAATTTTTATATATTTA TATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(567): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATCCATATACCC ACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCAC CCACCCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACC TATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 NA20752.hp2 HG01167.hp1 HG01169.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0095 a0003c0003t0096 a0003c0003t0008 a0003c0003t0095 a0003c0003t0096	a0003c0003t0008g0236 a0003c0003t0095g0194 a0003c0003t0096g0193 a0003c0003t0008g0236 a0003c0003t0095g0194 a0003c0003t0096g0193	3	262	0.0115	574	c.775 others(589): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGG TGGGTATATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGG GTAGGTAAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAAT GGATGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGG ATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGA ATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAG GGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGA TGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TATACACG others(567): Show TATACACGTATATACGTATACGTGTACACACATATATATACACGTATATA CGTATACGTGTACACACACGTATATACGTATACGTGTACACACACGTATA TACGTATACGTGTACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACACGTATATACGTATACGTGTACACACACACACGTATATACG TATACGTGTACACACACATACACGTATATACGTATACGTGTACACACACA TACACGTATATACGTATACGTGTACACACATATACCTATACGTGTACACA CATATACGTATACGTGTACACACATATACACGTATACGTGTACACACACA TACACGTATACGTGTACACACACATACACGTATACGTGTACACACACATA CACGTATACGTGTACACACACATACACGTATACGTGTACACACATATACA CGTATATACGTATACGTGTACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0112 a0001c0003t0112	a0001c0003t0112g0130 a0001c0003t0112g0130	1	169	0.0059	574	c.48- others(591): Show c.48-70583_48-70582insTACACGTATATACGTATACGTGTACACA CATATATATACACGTATATACGTATACGTGTACACACACGTATATACGTA TACGTGTACACACACGTATATACGTATACGTGTACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACGTATATACGTATACGTGTACACACACA CGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGTA CACACACACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACACA TATACCTATACGTGTACACACATATACGTATACGTGTACACACATATACA CGTATACGTGTACACACACATACACGTATACGTGTACACACACATACACG TATACGTGTACACACACATACACGTATACGTGTACACACACATACACGTA TACGTGTACACACATATACACGTATATACGTATACGTGTACACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGPAT2_chr9_136668143_136692457	136675347	C C	CAGCAGGG others(567): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp2 HG02647.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0163 a0001c0001t0001g0174	2	374	0.0054	574	c.589 others(589): Show c.589-541_589-540insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTG CTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCC TCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCT GCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(567): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	374	0.0027	574	c.589 others(589): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTG CTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCC TCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCT GCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(567): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	374	0.0027	574	c.589 others(589): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTG CTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCC TCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCT GCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AK3_chr9_4704556_4746202	4713900	C C	CTACACAT others(567): Show CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCAC ATATACACGCCTCCACATATACACGCCTCCACATATACACGCCTACACAT ATACACCTACACATATACACGCCTACACATATACACGCCTACACATACAC GCCTACACATATACGCCTACACGTATACACCTACACGTATACACCTCCAC ATATACACACCTCCACATATACACACCTCCACATATACACACCTCCACAT ATACACCTACACATATACACCTACACATATACACACCTACACATATACAC ACCTACACATATACACCTACACATATACACACCTCCACATATACACCTAC ACATACACACCTACACATATACACCTACACATATGCACACCTACACATAT ACACCTCCACATACACACACCTCCACATATACACACCTACACATACGCCT ACACATATATGCCTACACATATACGCCTACACATATACGCCTACACATAT ACACCTCCACATATACACACCTCCACATATACACACCTCCACATATACAC ACCTCCACATATATGCCTACACATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0084 a0001c0001t0060g0084	1	462	0.0022	574	c.564 others(589): Show c.564-805_564-804insTATGTGTAGGCATATATGTGGAGGTGTGTA TATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTATATG TGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCATATATGTGTAGGCG TATGTGTAGGTGTGTATATGTGGAGGTGTGTGTATGTGGAGGTGTATATG TGTAGGTGTGCATATGTGTAGGTGTATATGTGTAGGTGTGTATGTGTAGG TGTATATGTGGAGGTGTGTATATGTGTAGGTGTATATGTGTAGGTGTGTA TATGTGTAGGTGTGTATATGTGTAGGTGTATATGTGTAGGTGTATATGTG GAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGA GGTGTATACGTGTAGGTGTATACGTGTAGGCGTATATGTGTAGGCGTGTA TGTGTAGGCGTGTATATGTGTAGGCGTGTATATGTGTAGGTGTATATGTG TAGGCGTGTATATGTGGAGGCGTGTATATGTGGAGGCGTGTATATGTGGA GGTGTGTATGTGGAGGTGTGTATATGTGGAGGTGTATATGTGTA	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(567): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACTATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAA CATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTAT ATACGTATATACAACATAAATATATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATAT ACGTATATACTATATATGTTGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0236 a0001c0002t0053g0236	1	236	0.0042	574	c.676 others(591): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(567): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATACT ATATATATAGTATATATATATAAACTATATATATAGTTTATATATATATA AACTATATATATAGTTTATATATATATATACTATATATATAGTATATATA TATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTT TATATATATATATACTATATATATAGTTTATATATATATATATACTATAT ATATAGTTTATATATATATATACTATATATATAGTTTATATATATATACT ATATATATAGTTTATATATATATATACTATATATATAGTTTATATATATA TATACTATATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	304	0.0033	574	c.331 others(593): Show c.3314-1170_3314-1169insATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATATATAAACTATATA TATAGTATATATATATATATAAACTATATATATAGTATATATATATATAA ACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATAT ATATATACTATATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATACTATATATATA GTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATAGTATATATATACTATATATAGTATATATATATAAA CTATATATAGTATATATATATAAACTATATATATAGTATATATAAACTAT ATATATAGTATATATATATAAACTATATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(567): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCTCCTCCTCCTCCT CCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGC CCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATC CAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCT CCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCA GCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTC AGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCC CTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	334	0.0030	574	c.-10 others(585): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGC CCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAG CCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCA GCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCA GCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCC AGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTC CTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCT CCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(567): Show CGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGG CGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGAC GGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGG AGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGG ACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGG ACGGAGGGAGGGAGGGAGGGAGGGATGGAGGGCGGGACGGAGGGAGGGAG GGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGA GGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGG AGGGAGGGCGGGAGGGATGGAGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0050 a0002c0006t0001g0050	1	410	0.0024	574	c.465 others(589): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCC TCCCTCCGTCCCGCCCTCCATCCCTCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCC GCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(567): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGG CGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGG ACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGG CGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGG AGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0217 a0002c0004t0001g0217	1	410	0.0024	574	c.465 others(589): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTC CCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(567): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGACGGGAGGGATGGAGGG AGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0100 a0002c0004t0001g0100	1	410	0.0024	574	c.465 others(589): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGTCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTC CCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCG TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC GCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTC CGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(567): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGG AGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04184.hp1 HG01175.hp2 HG04184.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0114 a0001c0005t0001g0221 a0001c0005t0001g0114 a0001c0005t0001g0221	2	410	0.0049	574	c.465 others(589): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTC CCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCG TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC GCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTC CGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1C_chr12_2047987_2702950	2539665	T T	TTTCATAA others(567): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02145.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0011t0030 a0001c0001t0005 a0001c0011t0030	a0001c0001t0005g0042 a0001c0011t0030g0039 a0001c0001t0005g0042 a0001c0011t0030g0039	2	104	0.0192	574	c.139 others(595): Show c.1391-10238_1391-10237insCTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC34_chr19_526760_547087	534601	G G	GCCCTGTC others(567): Show GCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTG TCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGA CCTTGCCCACGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGC CCACGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACGA TCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAG ACCCCCGAGTGCCCTCCCTGTGCAGACCTCGCCCACGATCCAAGACCCCC GAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCTGAGTG CCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCTGAGTGCCCTC CCTGTCCAGACCTCGCCCACAATCCAAGACCCCCGAGTACCCTCCCTGTC AAGGCCTCGCCCACGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACC TCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCC ACGATCCAAGACCCCCGAGTGCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	328	0.0031	574	c.178 others(591): Show c.178-1134_178-1133insTGCCCACGATCCAAGACCCCCGAGTGCC CGCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCGCCCT GTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAG ACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTGCAGACCTCG CCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACG ATCCAAGACCCCCTGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCA AGACCCCCTGAGTGCCCTCCCTGTCCAGACCTCGCCCACAATCCAAGACC CCCGAGTACCCTCCCTGTCAAGGCCTCGCCCACGATCCAAGACCCCCGAG TGCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCT CCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGT CCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGAC CTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCT	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(567): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCC CTCCTCTCCCCTCCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	256	0.0039	574	c.-45 others(595): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(567): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	256	0.0039	574	c.-45 others(595): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132895913	C C	CGGTGAGA others(567): Show CGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACACGGTGAGAA GGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAG GCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTGTGTGT GCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGA AGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGT GAGAAGGCAGCCAGGCTGTGTGTGCCACATGAAGACATGGTGAGAAGGCA GCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTC TGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTGTGTGTGCCA CATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGAC ATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGA AGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCA GGCTCTGTGTGCCACATGAAGACAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0099 a0029c0099	a0029c0099t0002 a0029c0099t0002	a0029c0099t0002g0017 a0029c0099t0002g0017	1	246	0.0041	574	c.321 others(593): Show c.3219+3045_3219+3046insATGTCTTCATGTGGCACACAGAGCCT GGCTGCCTTCTCACCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTT CTCACCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATG TCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGTCTTCATGT GGCACACACAGCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAG AGCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAGAGCCTGGCT GCCTTCTCACCATGTCTTCATGTGGCACACACAGCCTGGCTGCCTTCTCA CCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGTCTT CATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCA CACACAGCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAGAGCC TGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCT TCTCACCGTGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(567): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	372	0.0027	574	c.894 others(589): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(567): Show GTATATTCATATATATATTCATATGTATATTCATATATATATTCATATGT ATATTCATATATATGATATATATCATATATACATATGATATATACATGAT ATATATGATATATATGATATATATGATATATATATGATATATATGATACA TATGATATATATGATATATATATGATACAAATGATATATATGATATATAT GATATATATCAGATATATATATCATATATATCATATATATCATTTGTATC ATATATATATCATATATATCATATGTATCATATATATCATGTATATATCA TATATATCATATATATCATATATGTATTCATATATATCATATATATTCAT ATATCATATATATTCATATATATCATATATTCATATATATCATATATATT CATATATATCATATATTCATATATATCATATATATTCATATATATATCAT ATATATTCATATATATATCATATATATTCATATATATATCATATATATTC ATATATATATCATATATATTCATATATATATCATATATATTCATATATAT ATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0064 a0001c0005t0010g0064	1	182	0.0055	574	c.267 others(591): Show c.267-6912_267-6911insGTATATTCATATATATATTCATATGTAT ATTCATATATATGATATATATCATATATACATATGATATATACATGATAT ATATGATATATATGATATATATGATATATATATGATATATATGATACATA TGATATATATGATATATATATGATACAAATGATATATATGATATATATGA TATATATCAGATATATATATCATATATATCATATATATCATTTGTATCAT ATATATATCATATATATCATATGTATCATATATATCATGTATATATCATA TATATCATATATATCATATATGTATTCATATATATCATATATATTCATAT ATCATATATATTCATATATATCATATATTCATATATATCATATATATTCA TATATATCATATATTCATATATATCATATATATTCATATATATATCATAT ATATTCATATATATATCATATATATTCATATATATATCATATATATTCAT ATATATATCATATATATTCATATATATATCATATATATTCATATATATAT CATATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A1_chr9_134636803_134849843	134685476	C C	CCACCATC others(567): Show CCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATT CATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCAT CCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCA TCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCA TCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCC ATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATC CATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATC CATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCAC CCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCA TCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCA TCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCA TCCATCCATCCACCATCCATCCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02258.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0011 a0001c0007 a0001c0011	a0001c0007t0004 a0001c0011t0007 a0001c0007t0004 a0001c0011t0007	a0001c0007t0004g0028 a0001c0011t0007g0027 a0001c0007t0004g0028 a0001c0011t0007g0027	2	272	0.0074	574	c.110 others(591): Show c.110-5434_110-5433insCCATCCATCCATCCATCCACCATCCATC CATCCACCATCCATCCATTCATCCATCCATCCATTCATCCATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCGTCCATCCATCCATCCATGCATCTGTCATCCATCCACCATCCAT CCATTCATTCATCCATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCATCC ATCCATTAATTCATCCATCCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCCTCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCA TCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATACA TCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRTC3_chr15_90524923_90650345	90647357	C C	CCTCCACA others(567): Show CCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCC TCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCC TCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTC CTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCAC ACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACAC CCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTT TGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCC TCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTC CTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCT CCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGT TTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTC CACACCCCTCCCCCTCCTCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0220 a0003c0003t0001g0220	1	276	0.0036	574	c.52 others(585): Show c.5217_*5218insCTCCACACCCCTCCTCCTCCTCCACACCCCTCCT CCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAC CCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCC TCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACA CCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAAC CCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCC CTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACC CCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCC TCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCAC CACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAAC GCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTC CCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2013		chr15	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(567): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGG GGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGG TGAGGGAGTCGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	367	0.0027	574	c.-42 others(585): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG CGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
EGFL7_chr9_136657916_136677678	136675347	C C	CAGCAGGG others(567): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03225.hp1 HG02647.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0118 a0002c0002t0001g0005 a0001c0001t0001g0118 a0002c0002t0001g0005	2	432	0.0046	574	c.30 others(585): Show c.3061_*3062insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAG GTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGG GGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCA GCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2670		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(567): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	432	0.0023	574	c.31 others(585): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAG GTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGG GGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCA GCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(567): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	432	0.0023	574	c.31 others(585): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAG GTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGG GGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCA GCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
FAM118A_chr22_45304934_45346955	45328067	T T	TGGGCTGG others(567): Show TGGGCTGGGGGTACGGGAGGTCTTTGGCCGGCAGCAGAACAAGCCCATGG AGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGAA GGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGG ACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCGGCA GAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTATGGG CTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTC TCTGGACTTGAAGGACAAGACCAAGGTATGGGCTGGGGGTGCGGGAGGCC TTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAA GACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAAC AAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACGGGCTGG GGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTG GACTTGAAGGACAAGACCAAGGTAC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0157 a0002c0002t0002g0157	1	416	0.0024	574	c.522 others(587): Show c.522+15_522+16insACGGGAGGTCTTTGGCCGGCAGCAGAACAAGC CCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGT GCGGAAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACT TGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCG GCGGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGG TATGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCAT GGAGTCTCTGGACTTGAAGGACAAGACCAAGGTATGGGCTGGGGGTGCGG GAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAA GGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAG CAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACG GGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAG TCCCTGGACTTGAAGGACAAGACCAAGGTACGGGCTGGGGGT	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(567): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCGTCTTCTGCTCCTTTCCTCCTCCTCCTTCT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACC CGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCC TCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTC TTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTC TCCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02622.hp2 others(3): Show HG02145.hp1 HG02559.hp1 HG02622.hp2 HG02818.hp2 HG03579.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0043 a0003c0003t0044 a0003c0003t0009 a0003c0003t0043 a0003c0003t0044	a0003c0003t0009g0083 a0003c0003t0009g0085 a0003c0003t0009g0087 others(3): Show a0003c0003t0009g0083 a0003c0003t0009g0085 a0003c0003t0009g0087 a0003c0003t0009g0088 a0003c0003t0043g0084 a0003c0003t0044g0089	6	234	0.0256	574	c.489 others(593): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCGTCTTCTGCTCC TTTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC TTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTC CTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCT CCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTT CCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FLT4_chr5_180596506_180654600	180615933	C C	CTCCACTT others(567): Show CTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCTCCCTTCTCCA CTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTC CCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTG GTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGG CCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACACTGTGGCCCC GCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCAC TGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGC CCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGC TGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTG GGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC GCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGG TCACCTCCCTTCTCCACTTCCGAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	388	0.0026	574	c.321 others(591): Show c.3219+433_3219+434insTTTCGGAAGTGGAGAAGGGAGGTGACCA GCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGG CCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGACCCAG TGCTCCGAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCG GGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCC CAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTG CTCCGAAAGGAAGTGGATTTCGGAAGTGGAGATGGGAGTTGACCAGCGGG GCCACAGTGTTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCC AGTGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAG CGGGGCCCAGTGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAG GTGACCGGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGG AGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar

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Search Results (Total: 10000 hits)