Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TERT_chr5_1248167_1300068	1273332	A A	ACACATCA others(549): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	392	0.0026	556	c.228 others(575): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTG TGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG TGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376976	C C	CTCTGTGC others(549): Show CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCT GTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0315 a0006c0006t0003g0315	1	370	0.0027	556	c.-10 others(567): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(549): Show ATATTATATATACATTATATATATATATTATATATACATTATATATATAT TATATATACATTATATATATATATTATATATACATTATATATATATATTA TATATACATTATATATATATATATACATTATATATATATATTATATATAC ATTATATATATATATTATATATACATTATATATATATATTATATATACAT TATATATATATATTATATATACATTATATATATATATTATATATACATTA TATATATATTATATATACATTATATATATATTATATATACATTATATATA TATTATATATACATTATATATATATATTATATATACATTATATATATATA TTATATATACATTATATATATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATATCATATATTATATATACATTATATATATC ATATATTATATATACATTATATATATCATATATTATATATACATTATATA TATTATATATTATATATACATTATATATATTATATATTATATATACATTA TATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	224	0.0045	556	c.102 others(575): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATGATATATATAATGTATATA TAATATATGATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATATATATAATGTATATATAATATATATATATAATGTATA TATAATATATATATATAATGTATATATAATATATATATAATGTATATATA ATATATATATAATGTATATATAATATATATATAATGTATATATAATATAT ATATATAATGTATATATAATATATATATATAATGTATATATAATATATAT ATATAATGTATATATAATATATATATATAATGTATATATAATATATATAT ATAATGTATATATATATATATAATGTATATATAATATATATATATAATGT ATATATAATATATATATATAATGTATATATAATATATATATAATGTATAT ATAATATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(549): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTATA CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATGTATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTA TAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACAT TATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATG TATAATGTATATATACATTATACATACGTAAATGTATTATACATAAATGT ATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02717.hp1 HG01243.hp1 HG02622.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0330 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0330	3	388	0.0077	556	c.-23 others(573): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTA TATATACATTATACATTTACGTATGTATAATGTATATATACATTATACAT TTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATG TATATATACATTATACATTTACGTATGTATAATGTATATATACATTATAC ATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAA TGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATACATGTATATATACATTATACATTTACGTAT GTATAATACATGTATATATACATATATACATTTACGTATGTATAATACAT GTATATATACATATATACATTTACGTATGTATAATACATGTATATATACA TATATACATTTACGTATGTATAATACATATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(549): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTC CCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTC CCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTC CTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTT TCCTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	2	334	0.0060	556	c.657 others(571): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCC CTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTC CCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCT TCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870424	A A	ACACACCA others(549): Show ACACACCACACACACACCACACACCCCACACAATCACATACCACACACAA ACCACACACCCCACACACACCACACACCCCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACACCCCCCACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACAC CCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CCCACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCA CACACAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	338	0.0030	556	c.35 others(575): Show c.35+21697_*35+21698insACACACACACCACACACCCCACACAA TCACATACCACACACAAACCACACACCCCACACACACCACACACCCCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCCCACACACCACACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCCCACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(549): Show TATATACACACGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATGTGTGTG TATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTG TGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTG TGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATG TGTGTGTATACGCATACACACATGTGTGTGTATACGCATACACACATGTG TGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATG TGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	320	0.0031	556	c.-38 others(567): Show c.-3848_-3847insATATACACACGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCAT ACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGC ATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATAC GCATACACACATATGTGTGTGTATACGCATACACACATGTGTGTGTATAC GCATACACACATGTGTGTGTATACGCATACACACATATGTGTGTGTATAC GCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370041	A A	ATGGGTGT others(549): Show ATGGGTGTGTATGGGTGTGTATATGTGTGTATGTGTGCGTATGTGTGTGT GTATGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGC GTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGT GTGTATATGCGTGTATGTGTGTGTGTGCGTGTGTGTATGTGTGTATATGT GTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGT ATGTGTGTGTGTATGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGT GTGTGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTATATGCGT GTGTATGCGTGTGTGTATATGCGTGTGTGTGTATGTGTGTGTATGTGTGT GTATGCGTGTGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTATGGGT GTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGT GTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0371 a0001c0002t0010g0371	1	468	0.0021	556	c.-6- others(571): Show c.-6-3673_-6-3672insGGGTGTGTATGGGTGTGTATATGTGTGTAT GTGTGCGTATGTGTGTGTGTATGTGTGTATGTGTGTGTGTATGTGTGTGT ATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATATGCGTGTGTAT GCGTGTGTGTATATGCGTGTGTATATGCGTGTATGTGTGTGTGTGCGTGT GTGTATGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTATATGC GTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATGT GTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTATGTGTGTATGTGT GTGTATATGTGTGTATGTGTGTGTGTGTGTGTATGTGTGTATATGTGTGT GTATGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTGTGT ATGTGTGTGTATGTGTGTGTATGCGTGTGTGTGTGTGTGTATATGCGTGT GTATGCGTGTGTATGGGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT GTATGTGTGTGTGTATGTGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370675	A A	ATATGTGT others(549): Show ATATGTGTGTGTATATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGT ATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTAT ATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGT GTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGT GTATGTGTGTGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATAT GTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGT GTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTGTATGT GTGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGCGTGT GTGTATGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTGTGTGTATGC GTGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGT GTGTATGTGTGTGTATATGTGTGTATGCGTGTGTGTATGTGTGTGTGTAT GTGTGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0387 a0001c0002t0005g0387	1	468	0.0021	556	c.-6- others(571): Show c.-6-3039_-6-3038insATGTGTGTGTATATGCGTGTGTGTATGCGT GTGTATATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTGT ATGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGT GTATATGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGT GTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATGTGT GTGTATGTGTGTGTATATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGT GTATGTGTGTGTGTATGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTGT ATGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTATGTGT GTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTGTATGTGTGTGTAT ATGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTATGCGTGT GTGTATGTGTGTGTGTATGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTGGG others(549): Show CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC CGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCCGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCCGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCCGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTT GGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCCGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCCGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCAGAGGCTGTGGGACGGGGGTCGGGTG GGGCTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0311	1	344	0.0029	556	c.218 others(573): Show c.2182+158_2182+159insGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCCGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCCGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCCGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCCG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCCGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCCGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCAGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TATAGATG others(549): Show TATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATCTATAGA TAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATAGATGTATCTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATAGATAGATGTATCTATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGA TAGATAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	408	0.0025	556	c.53+ others(571): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATAGATGTATCTATC TATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATAGATAGATGTATCTATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCGATAGATAGATAGATGTATCTATC	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSIG4_chrX_66016738_66045080	66037125	T T	TATATAAT others(549): Show TATATAATATATATAATATATATAATATAATATAATGCAATATATAATAA TTATATAATATAATATATAATATATAATATATATAATATATAATATATAA TATATAATATATATTATATATAATAATATAATATATAATATACATTATAT AATAATATAATGTATATTATATAATAATAATGTAATATATAACATATATT ATATAATAATAATATAAGATATATTATATAATTAATATAATATATAATAT ATATTATATAATAATAATATAAGATATATTATATAATTAATATAATATAT AATATATATTATATAATTAATATAATATATAATATATATTATATAATAAT AATATAATATATATAATAATTATATAATATAGTATATAATATATATTATA TAATAATAATATAATATATATAATAATTATATAATATTAGAATATATATT ATACAATAATAATATAATATATATTATACAATAATAATATAATATATATA TAATTATATAATATAATATATATAATAATAATATAATATAATATATAATA TATATTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	218	0.0046	556	c.55+ others(571): Show c.55+2818_55+2819insTAATATATATTATATATTATATTATATTAT TATTATATATATTATATTATATAATTATATATATATTATATTATTATTGT ATAATATATATTATATTATTATTGTATAATATATATTCTAATATTATATA ATTATTATATATATTATATTATTATTATATAATATATATTATATACTATA TTATATAATTATTATATATATTATATTATTATTATATAATATATATTATA TATTATATTAATTATATAATATATATTATATATTATATTAATTATATAAT ATATCTTATATTATTATTATATAATATATATTATATATTATATTAATTAT ATAATATATCTTATATTATTATTATATAATATATGTTATATATTACATTA TTATTATATAATATACATTATATTATTATATAATGTATATTATATATTAT ATTATTATATATAATATATATTATATATTATATATTATATATTATATATA TTATATATTATATATTATATTATATAATTATTATATATTGCATTATATTA TATTATATATATTATATATATTATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037125	T T	TATATAAT others(549): Show TATATAATATATATAATATATATAATATAATATAATGCAATATATAATAA TTATATAATATAATATATAATATATAATATATATTATATATAATATATAA TATATAATATATATTATATATAATAATATAATATATAATATACATTATAT AATAATATAATGTATATTATATAATAATAATGTAATATATAACATATATT ATATAATAATAATATAAGATATATTATATAATTAATATAATATATAATAT ATATTATATAATAATAATATAAGATATATTATATAATTAATATAATATAT AATATATATTATATAATTAATATAATATATAATATATATTATATAATAAT AATATAATATATATAATAATTATATAATATAGTATATAATATATATTATA TAATAATAATATAATATATATAATAATTATATAATATTAGAATATATATT ATACAATAATAATATAATATATATTATACAATAATAATATAATATATATA TAATTATATAATATAATATATATAATAATAATATAATATAATATATAATA TATATTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04228.hp1 NA18975.hp2 others(2): Show HG03834.hp1 HG04228.hp1 NA18975.hp2 NA18999.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0076 a0001c0001t0001g0081 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0149	5	218	0.0229	556	c.55+ others(571): Show c.55+2818_55+2819insTAATATATATTATATATTATATTATATTAT TATTATATATATTATATTATATAATTATATATATATTATATTATTATTGT ATAATATATATTATATTATTATTGTATAATATATATTCTAATATTATATA ATTATTATATATATTATATTATTATTATATAATATATATTATATACTATA TTATATAATTATTATATATATTATATTATTATTATATAATATATATTATA TATTATATTAATTATATAATATATATTATATATTATATTAATTATATAAT ATATCTTATATTATTATTATATAATATATATTATATATTATATTAATTAT ATAATATATCTTATATTATTATTATATAATATATGTTATATATTACATTA TTATTATATAATATACATTATATTATTATATAATGTATATTATATATTAT ATTATTATATATAATATATATTATATATTATATATTATATATAATATATA TTATATATTATATATTATATTATATAATTATTATATATTGCATTATATTA TATTATATATATTATATATATTATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(549): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTC CCCCCTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0170 a0002c0003t0002g0170	1	246	0.0041	556	c.-10 others(573): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC TCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCT others(550): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCATGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCG TGTCTCTGCCCTGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCATCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	295	0.0034	557	c.38 others(568): Show c.3836_*3837insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGATGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACAGGGCAGAGACACGGGGACGGAGCAGAGACACGGGACG GAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACAC GGGACGGAGCAGAGACACGGGACGGGGCAGAGACATGGGGGACGGAGCAG AGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGG GACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAG ACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(550): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGA TGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0001 a0004c0028t0001	a0004c0028t0001g0147 a0004c0028t0001g0147	1	228	0.0044	557	c.259 others(578): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCC TTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTC CCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCT CCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(550): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0027 a0004c0003t0027	a0004c0003t0027g0034 a0004c0003t0027g0034	1	228	0.0044	557	c.259 others(578): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTC TCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350121	G G	GGGGAAGG others(550): Show GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	334	0.0030	557	c.838 others(572): Show c.838-925_838-924insTGCCTCCCTGCCTTCCCCTCCCTCCCTGCC TTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCC TGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCC TCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCC TCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTT CCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTG CCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTC CCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTC CCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCC CCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCC TTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCC TGCCTTCCCCTCCCTCCCTGCCTTCCC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
B4GALNT4_chr11_364499_387117	374763	A A	AAGGGAGG others(550): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGG AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGGAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	184	0.0054	557	c.784 others(572): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGGAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(550): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0029 a0001c0091t0029	a0001c0091t0029g0328 a0001c0091t0029g0328	1	338	0.0030	557	c.300 others(574): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(550): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	338	0.0030	557	c.300 others(574): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(550): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTGTGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA20752.hp1 HG04184.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0129 a0001c0001t0005g0099 a0001c0001t0002g0129 a0001c0001t0005g0099	2	144	0.0139	557	c.354 others(576): Show c.354+10718_354+10719insTTTTTTTTTTTTTTTTTTTTACAAAA AGGAACACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAA TCATGAATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAA AAAAGAACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGAT ACCAACACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAA AAAGACATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAA TACCCACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTC ACCAAAAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCACAATGGA ATTAAGTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGC AAATTAGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGA TAGTACTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATC AAAATAATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(550): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTC TCCCCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	256	0.0039	557	c.-45 others(578): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC TTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(550): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAAT ATTTTATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	402	0.0050	557	c.80- others(572): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTT TATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(550): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCTCT TCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTC CCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCC CTTCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	270	0.0037	557	c.162 others(578): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTC TTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCT CCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCT TCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	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(550): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCC TCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCT CCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCT TCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTC CCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCC CTTCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0178 a0001c0006t0004g0178	1	270	0.0037	557	c.162 others(578): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTC CCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCT TCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTC TCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCT CCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCT TCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	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(550): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCT CCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC TTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCT CCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCT TCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTC CCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCC CTTCCTCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0176 a0001c0002t0004g0176	1	270	0.0037	557	c.162 others(578): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTC TCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCT CCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCT TCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	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(550): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCT CCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCT TCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTC CCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCC CTTCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02809.hp2 HG02258.hp1 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0262 a0001c0002t0004g0263 a0001c0002t0004g0265 a0001c0002t0004g0262 a0001c0002t0004g0263 a0001c0002t0004g0265	3	270	0.0111	557	c.162 others(578): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCC CCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTC TCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCT CCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCT TCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTNAP5_chr2_124020287_124926219	124812097	T T	TAATTTAT others(550): Show TAATTTATATTTATATATTATATAATATATATTTATATTTATATATTATA TAATATATAATTTATATTTATATATTATATAATATATAATATATATATAT TATATAATATATAATTTATATTATATAATATATAATATATTTTATATTTG TATATTATATAATATATAATTTATATTATATATTATATATATAATTTATA TTATATATATAATATATTAATATATATTATATATTATATAATATATATTT ATATATTATATAATATATAATATATATTAATATATTATATAATATATAAT TTATATTTATATATTATATAATATAGAATTTATATTTATATATTATATAA TATAGAATTTATATTTATATATTATATAATATAGAATTTATATTTATATA TTATATAATATAGAATTTATATTTATATATTATATAATATAGAATTTATA TTTATATATTATATAATATAGAATTTATATTTATATATTATATAATATAG AATTTATATTTATATATTATATAATATAGAATTTATATTTATATATTATA TAATATAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	64	0.0156	557	c.321 others(578): Show c.3217+13807_3217+13808insTTTATATTTATATATTATATAATA TATAATTTATATTTATATATTATATAATATATAATATATATATATTATAT AATATATAATTTATATTATATAATATATAATATATTTTATATTTGTATAT TATATAATATATAATTTATATTATATATTATATATATAATTTATATTATA TATATAATATATTAATATATATTATATATTATATAATATATATTTATATA TTATATAATATATAATATATATTAATATATTATATAATATATAATTTATA TTTATATATTATATAATATAGAATTTATATTTATATATTATATAATATAG AATTTATATTTATATATTATATAATATAGAATTTATATTTATATATTATA TAATATAGAATTTATATTTATATATTATATAATATAGAATTTATATTTAT ATATTATATAATATAGAATTTATATTTATATATTATATAATATAGAATTT ATATTTATATATTATATAATATAGAATTTATATTTATATATTATATAATA TAGAATTTATATTTATATATTATATAATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL21A1_chr6_56051590_56252580	56098112	T T	TATATATA others(550): Show TATATATATAAATATGTAATTATAAATATATATGTAAATATATATAAATA TAAATATATTTATAAATATATAAATATATATAAAAATATATATAAATATA TAAAAAATATAAATATATATAAATATATAAATATATGTAAATATATATAA ATATGTATATAAATATATATATAAATATATATATATAAATATATATAAAT ATATAACTATACAAATAAATATATATAAATATATAAATATATAAATATAT ATGTAAATATATAAATATATATAAATATATATAAGTATATAAATATATAT AAATATATATAAGTATATAAATATATATATAAATATATATAAGTATATAA ATATATATATAAATATATATAAGTATATAAATATATATAAATATATATAA GTATATAAATATATATATAAATATATATAAGTATATATAAATATATATAA ATATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAA ATATATATAAATATATATAAGTATATATAAATATATATAAATATATATAA GTATATGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0010 a0013c0023t0010	a0013c0023t0010g0011 a0013c0023t0010g0011	1	264	0.0038	557	c.181 others(576): Show c.1812+3359_1812+3360insGCATATACTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATATTTATATACTTATATATATTTATATAT ATTTATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATATTTATATACTTATATATATTTATATATATTTATATACTT ATATATATTTATATATATTTATATATTTACATATATATTTATATATTTAT ATATTTATATATATTTATTTGTATAGTTATATATTTATATATATTTATAT ATATATATTTATATATATATTTATATACATATTTATATATATTTACATAT ATTTATATATTTATATATATTTATATTTTTTATATATTTATATATATTTT TATATATATTTATATATTTATAAATATATTTATATTTATATATATTTACA TATATATTTATAATTACATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(550): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	367	0.0027	557	c.-42 others(568): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(550): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	367	0.0027	557	c.-42 others(568): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(550): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCCCCCCACC CGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCC CACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCA CCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCACC CCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0204 a0002c0002t0015g0204	1	320	0.0031	557	c.39 others(568): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGGGGGGTGCGGGTGCGGGT GGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGG GGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGGAGAA others(550): Show GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGA AGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGA GGAGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGA GGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGTAGGGAGGGGA GGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGAAGAAGAAGGGA GGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGGGAGAAGAAGG GAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGG GAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGA GGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGA GGGGCGAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	88	0.0114	557	c.158 others(574): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTCCCC TCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTTCCCTCCCC TCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTACTTCTCCCC TCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTC TCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCTTCTTCTCCCCTCCCCTCCCCTCTCCTCCCTTCTTCTCCCCTCCCT TCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTC TCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCC TCCCTTCTTCTCCCCTCCCTTCTTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(550): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTC CACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCA CCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACC ATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTC CACCATCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01256.hp1 others(16): Show HG00140.hp1 HG00408.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG02080.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18943.hp1 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18990.hp2 NA19011.hp1 NA19070.hp1 NA19074.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0020 a0055	a0001c0002 a0001c0003 a0002c0005 others(8): Show a0001c0002 a0001c0003 a0002c0005 a0002c0012 a0003c0001 a0005c0013 a0006c0027 a0008c0022 a0009c0015 a0020c0071 a0055c0141	a0001c0002t0001 a0001c0003t0001 a0002c0005t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0002c0005t0001 a0002c0012t0002 a0003c0001t0001 a0005c0013t0001 a0006c0027t0002 a0008c0022t0001 a0009c0015t0007 a0020c0071t0002 a0055c0141t0002	a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0003t0001g0098 others(16): Show a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0003t0001g0098 a0002c0005t0001g0096 a0002c0005t0001g0180 a0002c0012t0002g0256 a0003c0001t0001g0130 a0003c0001t0001g0131 a0003c0001t0001g0133 a0003c0001t0001g0147 a0003c0001t0001g0148 a0003c0001t0001g0151 a0003c0001t0001g0154 a0005c0013t0001g0190 a0006c0027t0002g0193 a0008c0022t0001g0227 a0009c0015t0007g0062 a0020c0071t0002g0104 a0055c0141t0002g0199	19	256	0.0742	557	c.323 others(576): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCACC ATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCC CACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCA CCACCACCACCACCACCTCCTCCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(550): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACCACACACACCAGCCACCACACATACAGCACACACACAAA CACACCACACACACTACACTATATACCACACACACTCCAAACCCCACACA CATTACACATCACACCACACACACACACACCAGATAACATACCACACACT ACATACCACATGTACCACACACAACACACATCCGACATACCACACACAGC ACATACCACATACCACATTACATACCACACCACATACCACACATCCTACA TACCACATCATACACACCACACACAACACATACTACACACCCCACAGTAC CACATACACCACATAACACACTACATGCCACACTTCTTCCATACATCATA CATACCACAAACATCACACAGCACACAGCACATACCACACATTCCACATA CGACATCATACACACCACACACACTGCACATATTATACCAACACATCCCA CATACCAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0034 a0002c0008t0006g0034	1	38	0.0263	557	c.243 others(576): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC CACACACACCAGCCACCACACATACAGCACACACACAAACACACCACACA CACTACACTATATACCACACACACTCCAAACCCCACACACATTACACATC ACACCACACACACACACACCAGATAACATACCACACACTACATACCACAT GTACCACACACAACACACATCCGACATACCACACACAGCACATACCACAT ACCACATTACATACCACACCACATACCACACATCCTACATACCACATCAT ACACACCACACACAACACATACTACACACCCCACAGTACCACATACACCA CATAACACACTACATGCCACACTTCTTCCATACATCATACATACCACAAA CATCACACAGCACACAGCACATACCACACATTCCACATACGACATCATAC ACACCACACACACTGCACATATTATACCAACACATCCCACATACCATATC ATATACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(550): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGGAAGGGAGGGAGGGAGGGAAGGGA TGGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGA GGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGG GAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGA GGGAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGG AAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGG AGGGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGA AGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGG AAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGG AAGGAGGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0128 a0015c0024t0001g0128	1	290	0.0035	557	c.757 others(574): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC CTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCCTCCCTCCCTTCCCTCC TTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCC TCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCC CTTCCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCT CCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCC TCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EIPR1_chr2_3183970_3382818	3315770	T T	TACCACCA others(550): Show TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATA CACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACC ACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCA CCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCA CAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCAC CACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACC ATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	250	0.0040	557	c.259 others(576): Show c.259+22246_259+22247insGGTAGGGGGTGTGGATGGGGATGGTG GTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGT AGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTAT GGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAT GGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315978	T T	TCCACACC others(550): Show TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATC CACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACC ACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCA CCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCA CACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACC ATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACA CCCCCACCACCATCCTCACCACCATCCCCATACACACCCCCACCACCATC CTCACCACCATCCCCATACACACCCCCACCACCATCACCACCACCATCAT CACCACCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	250	0.0040	557	c.259 others(576): Show c.259+22038_259+22039insGGGTGGTGATGATGGTGGTGGTGATG GTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTG TATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGGATGGTGG TGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGT AGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGAT GGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAG GATGGTGGTAGGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137350572	A A	AGGGGTTA others(550): Show AGGGGTTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAG AGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCAC AAGGAGGGGGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGA TAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGG ATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTG CTAGATAGAGAGGGGTGGGGATTACGGGGAGGGGTTAGATAGAGAGGGGT GGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAG GGTTCTAGATAGAGAGGGGTGGGGATCACAAGGAGGGGGCTAGATAGAGA GGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACG GGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGAT AGAGAGGGGTGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGA TTACGGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0024 a0014c0029t0001g0024	1	82	0.0122	557	c.149 others(574): Show c.1494+465_1494+466insCCCCGTAATCCCCACCCCTCTCTATCTA GCACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGTGA TCCCCACCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCT ATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCCCCCTCCT TGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCC TCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAACCCC TCCCCGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCCA CCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAG AACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGAT CCCCACCCCTCTCTATCTAGCCCCCTCCTTGTGATCCCCACCCCTCTCTA TCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCC GTGATCCCCACCCCTCTCTATCTAACCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(550): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTTAGGAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0254 a0001c0004t0004g0254	1	384	0.0026	557	c.467 others(572): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(550): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTTAGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG03195.hp1 HG02257.hp2 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0004g0253 a0001c0004t0002g0040 a0001c0001t0004g0253 a0001c0004t0002g0040	3	384	0.0078	557	c.467 others(572): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(550): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTTAGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 HG03471.hp1 HG02723.hp1 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0002 a0001c0014t0001 a0001c0004t0002 a0001c0014t0001	a0001c0004t0002g0257 a0001c0004t0002g0262 a0001c0014t0001g0283 a0001c0004t0002g0257 a0001c0004t0002g0262 a0001c0014t0001g0283	3	384	0.0078	557	c.467 others(572): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(550): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATATTTATATATATATAAATAAATAT AAATATATATATTTATATGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATTATAAATATATATTTATACATATAAATAT ATATTATAAATATATATATTTATATTTATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATATAAATATATATATTTATA TTTATTTATATATATATAAATATATATATTTATATATAAATATATATATT TATATTTATTTCTATATATAAATATATATATTTATATATAAATATATATT TATATATATAAATATATATATTTATATTTATAAATATATATATTTATATA TATTTATATTTATATATATTTATATATATTTATATATAAATATATATTTA TATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	208	0.0048	557	c.-97 others(574): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATATTTATATATATATAAATAA ATATAAATATATATATTTATATGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATATTTATATATAAATATATA TATTTATATTTATTTCTATATATAAATATATATATTTATATATAAATATA TATTTATATATATAAATATATATATTTATATTTATAAATATATATATTTA TATATATTTATATTTATATATATTTATATATATTTATATATAAATATATA TTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(550): Show CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACA AACACATACACACGCAGACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACAC ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAGACA CACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAG ACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACA CACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCAGCATGGACACAAACACATACACACGCAGACACACACACACACACACA AACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGAC ACACACAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0003 a0018c0030t0003	a0018c0030t0003g0102 a0018c0030t0003g0102	1	155	0.0065	557	c.488 others(572): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC GGGATGTGTTTACTGTGTTTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCT GTCGGGATGTATTTACTGTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTC CCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCT GTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTG TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTT TACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCG GGATGTATTTAGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
IQCJ_chr3_159064319_159268747	159229711	C C	CTCCCCCC others(550): Show CTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTCCTCC TCCCCCACCCCCTCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCTCCCCCC TCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCT CCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCC CCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCT CCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCCCTCCTCCTCCTGCT CTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCC CGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCTC CTCCCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp2 HG02970.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0002 a0001c0002t0006g0002	2	252	0.0079	557	c.10- others(574): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCTCCTCCCCCTCCCC CCTCCTCCCCCTCCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTC CCCATCCTCCTCCCACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCC ACCTCCCCCTCCTCCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCT CGTCCTCCTCCCCCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCC CCCCCTCCTCCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTC CTCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA CTCCTCCTCCCCCTCCTCCTCCCCCATCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(550): Show CGCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCG CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCC CCACAGCT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	312	0.0032	557	c.-41 others(572): Show c.-41+629_-41+630insCCCCACAGCCGCCCCCCCCCACAGCCGCCC CCCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCC CACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGC CCCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCC GCAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCC CCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997134	T T	TTGGGGGC others(550): Show TTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT AGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGG GCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATC TGCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0310 a0001c0001t0002g0311	2	375	0.0053	557	c.-23 others(568): Show c.-2335_-2334insTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGG GGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGTCGGGGGAATCTGCAGAGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		536		chr6	TogoVar
LCN15_chr9_136754634_136769518	136769349	A A	ACCCCTCC others(550): Show ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCC CCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCCCCATGCACT GCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATG CACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTC CATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCCC CCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCA CCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCC GCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCC CCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTG CCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCCCCATGC ACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	356	0.0028	557	c.-48 others(568): Show c.-4862_-4861insGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGCAGTGCATGGAG GGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCAT GGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGT GCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGG CAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGG GGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGC GGGGGGGGCAGTGCATGGAGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4832		chr9	TogoVar
MBP_chr18_76973833_77137783	77118010	T T	TGGGATGG others(550): Show TGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGATGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACA GTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTG GGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGGACAGTGG GTTGGGGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	396	0.0025	557	c.-25 others(576): Show c.-25-12725_-25-12724insGCCCCAACCCACTGTCCCCCATCCCG CCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCGCC CCAACCCACTGTCCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCA ACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCGCCCCAA CCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACTCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACT GTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACCCACTG TCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACCCACTGT CCCCATCCCACCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCC CCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar

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Search Results (Total: 10000 hits)