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
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(299): Show ACAGGACTCATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02109.hp2 others(2): Show HG01168.hp2 HG01169.hp1 HG02109.hp2 HG02145.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0275 a0001c0001t0003g0291 others(1): Show a0001c0001t0003g0014 a0001c0001t0003g0275 a0001c0001t0003g0291 a0001c0001t0003g0311	5	382	0.0131	306	c.143 others(321): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTGGGAAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(299): Show ACAGGACTCATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	382	0.0026	306	c.143 others(321): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631589	G G	GGACTCAT others(299): Show GGACTCATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02148.hp1 HG03669.hp2 others(3): Show HG00597.hp1 HG02148.hp1 HG03669.hp2 NA18982.hp1 NA18985.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0198 a0001c0001t0001g0202 others(3): Show a0001c0001t0001g0160 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0218	6	382	0.0157	306	c.143 others(321): Show c.143-568_143-567insTTGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAATGAGTC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR64_chr1_241647281_241807777	241745307	T T	TAAAATCA others(299): Show TAAAATCATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0312 a0003c0003t0003g0312	1	326	0.0031	306	c.159 others(323): Show c.1594+801_1594+802insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGT CTCAAAAAAAAAAAAAAAAAAATCATGA	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB46_chr20_63738670_63836264	63758042	C C	CGCCCCGT others(299): Show CGCCCCGTCCAGAGCTCACACTCCCTCCACCCGCCCCGTCCAGAGCTCAC ACTCCCTCCACCCGCCCCGTCCAGAGCTCACACTCCCTCCACCCGCCCAT CCAAAGCTCACACTCCCTCCACCTGCCCATCCAGGGCTCACACTCCCTCC ACCCGCCCATCCAGAGCTCACACTCCCTCCACCCGCCCCGTCCAGAGCTC ACACTCCCTCCACCCGCCCCGTCCAGAGCTCACACTCCCTCCACCCGCCC CGTCCAGAGCTCACACTCCCTCCACCCGCCCATCCAAAGCTCACACTCCC TCCACCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0184 a0001c0001t0021g0184	1	316	0.0032	306	c.122 others(325): Show c.1223-5182_1223-5181insAGGTGGAGGGAGTGTGAGCTTTGGAT GGGCGGGTGGAGGGAGTGTGAGCTCTGGACGGGGCGGGTGGAGGGAGTGT GAGCTCTGGACGGGGCGGGTGGAGGGAGTGTGAGCTCTGGACGGGGCGGG TGGAGGGAGTGTGAGCTCTGGATGGGCGGGTGGAGGGAGTGTGAGCCCTG GATGGGCAGGTGGAGGGAGTGTGAGCTTTGGATGGGCGGGTGGAGGGAGT GTGAGCTCTGGACGGGGCGGGTGGAGGGAGTGTGAGCTCTGGACGGGGCG GGTGGAGGGAGTGTGAGCTCTGGACGGGGC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	3/4			chr20	TogoVar
ZFPM1_chr16_88448280_88542031	88501285	G G	GGGGCCAT others(299): Show GGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGC ATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGTGGGCCTGGGTG CGGGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGT GCAGGGCCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0030 a0030	a0030c0037 a0030c0037	a0030c0037t0001 a0030c0037t0001	a0030c0037t0001g0056 a0030c0037t0001g0056	1	318	0.0031	306	c.268 others(325): Show c.268+12137_268+12138insATCCCGCAGGTGCTGGTGATGATGGA GATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATGATGG AGATAGTGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATA GAGATAGCAGACATGGGTGCAGGGCCTCTCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGTGGGCC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(299): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00639.hp1 others(51): Show HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01257.hp2 HG01346.hp2 HG01928.hp1 HG01978.hp2 HG02040.hp1 HG02129.hp1 HG02280.hp1 HG02615.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18944.hp1 NA18949.hp1 NA18956.hp1 NA18959.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp2 NA18985.hp1 NA18989.hp1 NA18995.hp1 NA19030.hp1 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19076.hp1 NA19077.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0004c0005t0010 a0001c0001t0001 a0001c0001t0004 a0004c0005t0010	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0004g0137 a0004c0005t0010g0040	54	270	0.2000	306	c.46 others(317): Show c.4686_*4687insGTGTATATACATATGTATACGTATACACGTGTAT ATACATATGTATACGTATACACGTGTATATACATATGTATACGTATACAC GTGTATATACATATGTATACGTATACACGTGTATATACATATGTATACGT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar
ZNF236_chr18_76817557_76977901	76851082	G G	GAAGAGTT others(299): Show GAAGAGTTTGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02818.hp1 others(2): Show HG02572.hp1 HG02723.hp2 HG02818.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078	5	346	0.0145	306	c.199 others(321): Show c.199-682_199-681insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAGAGTTTGAC	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF564_chr19_12520373_12556482	12556252	C C	CAAAAAAA others(299): Show CAAAAAAAAAAAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02145.hp1 HG02145.hp2 HG01934.hp1 HG02145.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0278 a0001c0001t0001g0370 a0001c0001t0001g0187 a0001c0001t0001g0278 a0001c0001t0001g0370	3	412	0.0073	306	c.-49 others(317): Show c.-4921_-4920insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTCTTTTTTTTTTTTTTT	ZNF564	ENSG00000249709.8	transcript	ENST00000339282.12	protein_coding		4771		chr19	TogoVar
ZNF564_chr19_12520373_12556482	12556260	A A	AAAAAAAA others(299): Show AAAAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02809.hp1 others(4): Show HG02055.hp2 HG02280.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0180 a0001c0001t0001g0189 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	7	412	0.0170	306	c.-49 others(317): Show c.-4929_-4928insCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTCTTTTTTT	ZNF564	ENSG00000249709.8	transcript	ENST00000339282.12	protein_coding		4779		chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(299): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTATATATATAGAAATATAT ATATATTTCTATATATAGAAATATATATATATTTCTATATATATAAATAT ATATATATTTCTATTTATATATATATATATTTATATATATAGAAATATAT ATATATTTATATATATATAAAATATATATTTATATATATATAAAATATAT ATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	400	0.0025	306	c.532 others(321): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATAAATAGAAATATATATATATTTATATATATAGAAATATA TATATATTTCTATATATAGAAATATATATATATTTCTATATATATAAATA TATATATATTTATATATATAGAAATATATATATATTTATATATATAGAAA TATATATATATTTATATATATAGAAATATATATATATTTATATATATAGA AATATATATATTTATATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABR_chr17_998519_1184981	1163948	G G	GGGACCCT others(300): Show GGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGACC CCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCCAGG TGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGC CCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCCAG GTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGG CCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATCTA GGTAGGAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0327 a0001c0001t0033g0327	1	337	0.0030	307	c.61+ others(324): Show c.61+15718_61+15719insGTCCTACCTAGATCCTCCGACATCCATG TTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTCAGT GCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCAT GTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTCAG TGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCA TGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCA GTGCTGTGTGTGACACTTTGCCAGGGTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164044	T T	TAGGTAGG others(300): Show TAGGTAGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAG GGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCAT CTAGGTAGGACGGACCCTGGCCAAGTGTCACACACAGCACTGAATCCAGA CGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGG AGCATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAG ACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCG GAGCATCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG04199.hp2 NA18952.hp2 others(10): Show HG02080.hp1 HG04199.hp2 NA18952.hp2 NA18954.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0030 a0001c0001t0036	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0006g0162 others(10): Show a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0006g0162 a0001c0001t0009g0022 a0001c0001t0009g0046 a0001c0001t0011g0125 a0001c0001t0013g0043 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0022g0031 a0001c0001t0022g0047 a0001c0001t0030g0107 a0001c0001t0036g0044	13	337	0.0386	307	c.61+ others(324): Show c.61+15622_61+15623insGGATGCTCCGACATCCATGTTCACTGGG CGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTGT GACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACTGG GCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTGGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCT GTGTGTGACACTTTGCCAGGGTCCTACCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164096	A A	ACCCCAGA others(300): Show ACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCT AGGTAGGACAGACCCTGGCCAAGTGTCACACACAGCACTGAATCCAGACG CAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAG CATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGA CGCAGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(39): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG01952.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 NA18947.hp1 NA18967.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0046 a0001c0001t0058 a0001c0001t0068 a0001c0001t0077 a0001c0001t0079 a0001c0002t0001 a0001c0002t0053 a0001c0002t0060	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0159 a0001c0001t0002g0084 a0001c0001t0002g0126 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0168 a0001c0001t0005g0266 a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0006g0142 a0001c0001t0008g0033 a0001c0001t0015g0265 a0001c0001t0019g0057 a0001c0001t0020g0161 a0001c0001t0046g0154 a0001c0001t0058g0076 a0001c0001t0068g0160 a0001c0001t0077g0067 a0001c0001t0079g0267 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0053g0070 a0001c0002t0060g0234	42	337	0.1246	307	c.61+ others(324): Show c.61+15570_61+15571insCCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACT GGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTG TGTGACACTTGGCCAGGGTCTGTCCTACCTAGATGCTCCGACATCCATGT TCACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164096	A A	ACCCCAGA others(300): Show ACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCT AGGTAGGACGGACCCTGGCCAAGTGTCACACACAGCACTGAATCCAGACG CAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAG CATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGA CGCAGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02622.hp1 others(10): Show HG01884.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03195.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0028 a0001c0001t0040 a0001c0001t0043 a0001c0003t0012 a0001c0003t0017 a0001c0003t0023 a0001c0003t0025	a0001c0001t0001g0124 a0001c0001t0003g0121 a0001c0001t0006g0118 others(10): Show a0001c0001t0001g0124 a0001c0001t0003g0121 a0001c0001t0006g0118 a0001c0001t0009g0004 a0001c0001t0028g0122 a0001c0001t0028g0123 a0001c0001t0040g0002 a0001c0001t0043g0008 a0001c0003t0012g0119 a0001c0003t0017g0120 a0001c0003t0023g0005 a0001c0003t0025g0006 a0001c0003t0025g0009	13	337	0.0386	307	c.61+ others(324): Show c.61+15570_61+15571insCCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACT GGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTG TGTGACACTTGGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCATGT TCACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164096	A A	ACCCCAGA others(300): Show ACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCT AGGTAGGACGGACCCTGGCCAAGTGTCACACACAGCACTGAATCCAGACG CAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAG CATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGA TGCAGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02647.hp2 others(2): Show HG01243.hp2 HG02486.hp2 HG02647.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0018 a0001c0001t0029 others(2): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0029 a0001c0002t0001 a0001c0002t0011	a0001c0001t0003g0112 a0001c0001t0018g0111 a0001c0001t0029g0116 others(2): Show a0001c0001t0003g0112 a0001c0001t0018g0111 a0001c0001t0029g0116 a0001c0002t0001g0110 a0001c0002t0011g0228	5	337	0.0148	307	c.61+ others(324): Show c.61+15570_61+15571insCCCCTGCATCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACT GGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTG TGTGACACTTGGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCATGT TCACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164255	C C	CCCTGGCA others(300): Show CCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGCCCCAG ATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATCTAGGTAGG ACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGAC CCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAG GTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCA GGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCA TCCAGGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG03041.hp1 others(2): Show HG02809.hp2 HG02970.hp1 HG03041.hp1 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0027 a0001c0001t0039 others(2): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0039 a0001c0003t0024 a0001c0006t0047	a0001c0001t0001g0224 a0001c0001t0027g0038 a0001c0001t0039g0010 others(2): Show a0001c0001t0001g0224 a0001c0001t0027g0038 a0001c0001t0039g0010 a0001c0003t0024g0040 a0001c0006t0047g0227	5	337	0.0148	307	c.61+ others(324): Show c.61+15411_61+15412insCACCTGGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCAT GTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAG TGCTGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGACA TCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGA TTCAGTGCTGTGTGTGACACTTTGCCAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164255	C C	CCCTGGCA others(300): Show CCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGCCCCAG ATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATCTAGGTAGG ACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGAC CCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAG GTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCA GGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCA TCTAGGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	337	0.0030	307	c.61+ others(324): Show c.61+15411_61+15412insCACCTAGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCAT GTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAG TGCTGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGACA TCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGA TTCAGTGCTGTGTGTGACACTTTGCCAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164255	C C	CGGACCCT others(300): Show CGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGACC CCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGG TAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAG GGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCAT CCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCA GGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCA TCTAGGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp1 HG02486.hp2 others(18): Show HG01243.hp2 HG02080.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02896.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp2 HG04199.hp2 NA18952.hp2 NA18954.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0044 a0001c0002t0001 a0001c0002t0011 a0001c0003t0016	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0003g0112 others(18): Show a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0003g0112 a0001c0001t0006g0162 a0001c0001t0009g0022 a0001c0001t0009g0046 a0001c0001t0011g0125 a0001c0001t0013g0043 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0018g0111 a0001c0001t0022g0031 a0001c0001t0022g0047 a0001c0001t0023g0035 a0001c0001t0029g0116 a0001c0001t0030g0107 a0001c0001t0036g0044 a0001c0001t0044g0021 a0001c0002t0001g0110 a0001c0002t0011g0228 a0001c0003t0016g0229	21	337	0.0623	307	c.61+ others(324): Show c.61+15411_61+15412insCACCTAGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCT GTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCA TGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCA GTGCTGTGTGTGACACTTTGCCAGGGTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164351	T T	TAGGTAGG others(300): Show TAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGA CGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGG AGCATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAG ACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCG GAGCATCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(51): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp1 HG01884.hp2 HG01952.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03195.hp2 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 NA18947.hp1 NA18967.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0001t0040 a0001c0001t0043 a0001c0001t0046 a0001c0001t0058 a0001c0001t0068 a0001c0001t0077 a0001c0001t0079 a0001c0002t0001 a0001c0002t0053 a0001c0002t0060 a0001c0003t0017 a0001c0003t0023 a0001c0003t0025	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0126 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0121 a0001c0001t0003g0168 a0001c0001t0005g0266 a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0077 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0006g0118 a0001c0001t0006g0142 a0001c0001t0008g0033 a0001c0001t0009g0004 a0001c0001t0015g0265 a0001c0001t0019g0057 a0001c0001t0020g0161 a0001c0001t0028g0122 a0001c0001t0028g0123 a0001c0001t0040g0002 a0001c0001t0043g0008 a0001c0001t0046g0154 a0001c0001t0058g0076 a0001c0001t0068g0160 a0001c0001t0077g0067 a0001c0001t0079g0267 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0053g0070 a0001c0002t0060g0234 a0001c0003t0017g0120 a0001c0003t0023g0005 a0001c0003t0025g0006 a0001c0003t0025g0009	54	337	0.1602	307	c.61+ others(324): Show c.61+15315_61+15316insGGATGCTCCGACATCCATGTTCACTGGG CGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTGT GACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACTGG GCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCGTCCTACCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACOT11_chr1_54543228_54615329	54561736	A A	ACCCCCCA others(300): Show ACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGG GGGCTGAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0175 a0002c0002t0003g0175	1	388	0.0026	307	c.33+ others(324): Show c.33+13400_33+13401insAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGGCTGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACP6_chr1_147637230_147675524	147652889	C C	CGATCTCG others(300): Show CGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTTTCCT GTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGGCCTCCCAA ATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTTTTACTGGT TTTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAATGC AGTGGCGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 others(12): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0001t0061 a0001c0003t0003 a0001c0003t0014 a0001c0003t0019 a0001c0003t0024 a0001c0003t0038 a0001c0003t0054 a0001c0003t0055 a0001c0003t0056 a0001c0003t0057	a0001c0001t0004g0002 a0001c0001t0004g0014 a0001c0001t0004g0016 others(48): Show a0001c0001t0004g0002 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0035 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0080 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0118 a0001c0001t0008g0015 a0001c0001t0008g0089 a0001c0001t0008g0090 a0001c0001t0008g0101 a0001c0001t0023g0144 a0001c0001t0023g0180 a0001c0001t0036g0093 a0001c0001t0037g0095 a0001c0001t0061g0186 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0003t0003g0010 a0001c0003t0003g0027 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0137 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0147 a0001c0003t0003g0183 a0001c0003t0014g0134 a0001c0003t0014g0136 a0001c0003t0014g0139 a0001c0003t0014g0142 a0001c0003t0019g0031 a0001c0003t0024g0126 a0001c0003t0024g0128 a0001c0003t0038g0100 a0001c0003t0054g0138 a0001c0003t0055g0127 a0001c0003t0056g0135 a0001c0003t0057g0132	133	404	0.3292	307	c.781 others(322): Show c.781-341_781-340insACGCCACTGCATTCCAACCTGGGTGACAGG GCAAGACTCCATCTCAAAAAAAAAAAAAACCAGTAAAACAGGCCAGGCGC GGTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGA TCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTG TAGTCCCAGCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGAGATC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652919	T T	TGGGTTCA others(300): Show TGGGTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACA GGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CACCCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGC GCCTGGCCTGTTTTACTGGTTTTTTTTTTTTTTGACATGGAGTCTTGCCC TGTCACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTC CACCTCCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0155 a0001c0002t0005g0155	1	404	0.0025	307	c.781 others(322): Show c.781-371_781-370insGGGAGGTGGAGCTTGCAGTGAGCCGAGATC ACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATGTCAAAAA AAAAAAAAACCAGTAAAACAGGCCAGGCGCGGTGGCTCACACCTGTAATC CCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATTGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAG GCTGAGACAGGAAAATGGCGTGAACCC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652922	G G	GTTCACGC others(300): Show GTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGT GCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCAC CCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCGCC TGGCCTGTTTTACTGGTTTTTTTTTTTTTGACATGGAGTCTTGCCCTGTC ACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACC TCCCGGGT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0110 a0001c0002t0021g0110	1	404	0.0025	307	c.781 others(322): Show c.781-374_781-373insACCCGGGAGGTGGAGCTTGCAGTGAGCCGA GATCACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATGTCA AAAAAAAAAAAACCAGTAAAACAGGCCAGGCGCGGTGGCTCACACCTGTA ATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGAT TGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAG GAGGCTGAGACAGGAAAATGGCGTGAA	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652993	A A	ATTTTTTT others(300): Show ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGGCTCCCAAATTGC TGGGATTACAGGTGTGAGCCAGCCGCGCCTGGCCTGTTTTACTGGTTTTT TTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAATGCAGTGG CGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTTTC CTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCC CGGCTAAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	404	0.0025	307	c.781 others(322): Show c.781-445_781-444insATTAGCCGGGCGTGGTGGCGGGCACCTGTA GTCCCAGCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGAG GTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCATTCCAACCTGGGTG ACAGGGCAAGACTCCATCTCAAAAAAAAAAAAACCAGTAAAACAGGCCAG GCGCGGCTGGCTCACACCTGTAATCCCAGCAATTTGGGAGCCGAGAAGGG TGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAAA	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147653119	G G	GCCTGGCC others(300): Show GCCTGGCCTGTTTTACTGGTTTTTTTTTTTTTTGAGATGGAGTCTTGCCC TGTCACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTC CACCTCCCGGGTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGG GACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCACCCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAG CCACCGCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	404	0.0025	307	c.781 others(322): Show c.781-571_781-570insTGCGGTGGCTCACACCTGTAATCCCAGCAA TTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATTGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGA CAGGAAAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATC ACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATCTCAAAAA AAAAAAAAACCAGTAAAACAGGCCAGG	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147653135	T T	TGTTTTTT others(300): Show TGTTTTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAA TGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACG CCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCC ACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGATCTCAATCTCCTGACCTCGTGATCCACCCTTCTC GGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTG TTTTACTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19043.hp2 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0052 a0001c0003t0051 a0001c0003t0052	a0001c0003t0051g0148 a0001c0003t0052g0149 a0001c0003t0051g0148 a0001c0003t0052g0149	2	404	0.0050	307	c.781 others(322): Show c.781-587_781-586insCAGTAAAACAGGCCAGGCGCGGTGGCTCAC ACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTC AGGAGATTGAGATCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGC TACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGAGGTGGAGCT TGCAGTGAGCCGAGATCACACCACTGCATTCCAACCTGGGTGACAGGGCA AGACTCCATCTCAAAAAAAAAAAAAAC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147653137	G G	GTTTTTTT others(300): Show GTTTTTTTTTTTTTGACATGGAGTCTTGCCCTGTCACCCAGGTTGGAATG CAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCC ATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAC CACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGG CCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCTGTT TTACTGGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	404	0.0025	307	c.781 others(322): Show c.781-589_781-588insACCAGTAAAACAGGCCGGGCGCGGTGGCTC ACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGG TCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCA GCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGAGGTGGAG CTTGCAGTGAGCCGAGATCACGCCACTGCATTCCAACCTGGGTGACAGGG CAAGACTCCATGTCAAAAAAAAAAAAA	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147653137	G G	GTTTTTTT others(300): Show GTTTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAATG CAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCC ATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAC CACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGG CCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTGTT TTACTGGT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0158 a0001c0001t0053g0158	1	404	0.0025	307	c.781 others(322): Show c.781-589_781-588insACCAGTAAAACAGGCCAGGTGCGGTGGCTC ACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGG TCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCA GCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGAGGTGGAG CTTGCAGTGAGCCGAGATCACGCCACTGCATTCCAACCTGGGTGACAGGG CAAGACTCCATCTCAAAAAAAAAAAAA	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACTG2_chr2_73888008_73924865	73898352	T T	TGCACCTT others(300): Show TGCACCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	416	0.0024	307	c.-36 others(324): Show c.-36-2913_-36-2912insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGCACCTTTTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147892494	A A	AAACTTTT others(300): Show AAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG01934.hp2 others(4): Show HG00423.hp1 HG01175.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0051 others(4): Show a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0114 a0001c0002t0001g0149 a0001c0002t0010g0048	7	338	0.0207	307	c.56- others(322): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCAACTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(300): Show ACCATTTTAAACATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01167.hp1 others(1): Show HG00423.hp1 HG00609.hp2 HG01167.hp1 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0062 others(1): Show a0001c0002 a0002c0001 a0002c0062 a0004c0069	a0001c0002t0066 a0002c0001t0004 a0002c0062t0011 others(1): Show a0001c0002t0066 a0002c0001t0004 a0002c0062t0011 a0004c0069t0001	a0001c0002t0066g0213 a0002c0001t0004g0154 a0002c0062t0011g0091 others(1): Show a0001c0002t0066g0213 a0002c0001t0004g0154 a0002c0062t0011g0091 a0004c0069t0001g0120	4	228	0.0175	307	c.790 others(324): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(300): Show ACCATTTTAAACATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0002 a0004 a0002 a0004	a0002c0078 a0004c0077 a0002c0078 a0004c0077	a0002c0078t0007 a0004c0077t0001 a0002c0078t0007 a0004c0077t0001	a0002c0078t0007g0184 a0004c0077t0001g0185 a0002c0078t0007g0184 a0004c0077t0001g0185	2	228	0.0088	307	c.790 others(324): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(300): Show ACCATTTTAAACATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00741.hp1 others(26): Show HG00408.hp2 HG00558.hp2 HG00741.hp1 HG01258.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02486.hp2 HG02698.hp2 HG03130.hp2 HG04199.hp2 NA18906.hp2 NA18962.hp2 NA18964.hp2 NA18983.hp2 NA18993.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19081.hp2 NA20752.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0007	a0002c0001 a0002c0004 a0002c0011 others(12): Show a0002c0001 a0002c0004 a0002c0011 a0002c0022 a0002c0029 a0002c0055 a0002c0068 a0004c0003 a0004c0008 a0004c0028 a0004c0030 a0004c0031 a0004c0076 a0006c0060 a0007c0061	a0002c0001t0002 a0002c0001t0004 a0002c0001t0016 others(20): Show a0002c0001t0002 a0002c0001t0004 a0002c0001t0016 a0002c0001t0031 a0002c0001t0038 a0002c0001t0057 a0002c0001t0062 a0002c0004t0002 a0002c0011t0006 a0002c0011t0064 a0002c0022t0035 a0002c0029t0002 a0002c0055t0014 a0002c0068t0013 a0004c0003t0001 a0004c0008t0001 a0004c0008t0003 a0004c0028t0001 a0004c0030t0003 a0004c0031t0003 a0004c0076t0001 a0006c0060t0014 a0007c0061t0003	a0002c0001t0002g0058 a0002c0001t0002g0144 a0002c0001t0002g0145 others(26): Show a0002c0001t0002g0058 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0004g0108 a0002c0001t0016g0205 a0002c0001t0031g0029 a0002c0001t0038g0051 a0002c0001t0057g0146 a0002c0001t0062g0141 a0002c0004t0002g0125 a0002c0011t0006g0054 a0002c0011t0064g0226 a0002c0022t0035g0040 a0002c0029t0002g0067 a0002c0055t0014g0002 a0002c0068t0013g0032 a0004c0003t0001g0136 a0004c0003t0001g0172 a0004c0003t0001g0197 a0004c0008t0001g0142 a0004c0008t0003g0035 a0004c0008t0003g0050 a0004c0028t0001g0147 a0004c0028t0001g0155 a0004c0030t0003g0020 a0004c0031t0003g0008 a0004c0076t0001g0186 a0006c0060t0014g0025 a0007c0061t0003g0009	29	228	0.1272	307	c.790 others(324): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(300): Show ACCATTTTAAACATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0052 a0001c0043t0052	a0001c0043t0052g0124 a0001c0043t0052g0124	1	228	0.0044	307	c.790 others(324): Show c.790-8337_790-8336insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	84007557	T T	TAAAAAAA others(300): Show TAAAAAAATAAAAATCCCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0032 a0005c0005t0002g0032	1	274	0.0037	307	c.397 others(326): Show c.3974-6969_3974-6968insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATAAAAATCC	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB2_chr10_1172313_1742525	1220246	G G	GTGATGGT others(300): Show GTGATGGTGGTGGTGATGGATGATGGTGATGGTGGTGATGATGGTGATGA TGATGGTAATGGTGATGGTGATGATGGTGGTGATGATGGTAATGGTGATG GTGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTAATGGTGATGGT GGTGGTGGTGATGATGGTGATGATGGTGAAGATAATGATGGCAATGGTGA TGATGGTGATGGTAATGATGGTGGTGATGATGGTGGTGATGATGATGATG GTAATGGTGGTGATGATGGTGATGGTGATGATGGTGGTGATAATGGTGGT GGTGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01934.hp1 others(19): Show HG01243.hp1 HG01433.hp2 HG01934.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG03041.hp1 HG04184.hp1 NA18522.hp2 NA18945.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp2 NA19011.hp1 NA19086.hp2 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0015	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(14): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0035 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0062 a0005c0015t0014	a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 others(19): Show a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0026 a0001c0001t0018g0027 a0001c0001t0035g0079 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0101 a0002c0002t0006g0018 a0002c0002t0062g0093 a0005c0015t0014g0008	22	106	0.2076	307	c.151 others(326): Show c.1514-3128_1514-3127insTCACCACCACCACCATTATCACCACC ATCATCACCATCACCATCATCACCACCATTACCATCATCATCATCACCAC CATCATCACCACCATCATTACCATCACCATCATCACCATTGCCATCATTA TCTTCACCATCATCACCATCATCACCACCACCACCATCACCATTACCACC ATCATCACCATCACCATCATCACCACCACCACCATCACCATTACCATCAT CACCACCATCATCACCATCACCATTACCATCATCATCACCATCATCACCA CCATCACCATCATCCATCACCACCACCATCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	6/9			chr10	TogoVar
ADCY2_chr5_7391138_7835081	7704000	C C	CAAAAAAA others(300): Show CAAAAAAAAAAAAAAGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0044 a0001c0001t0018g0044	1	140	0.0071	307	c.111 others(326): Show c.1110-2731_1110-2730insAGTTTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTT CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCT GCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133113170	G G	GCGTCGGT others(300): Show GCGTCGGTTATTTGAGGTCTGTGGGCCGCGTCAGTTATTTGGGGTCTGTA AGCTGTGTCAGTTATTTGGGGTCTGCGGGCCGTGTCGGTTCGGTTATTTG GGGTCTGTAAGCTGTGTCGGTTATTTGAGGTCTGTGGGCCACGTCGGTTA TTTGAGGTCTGTAAGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGCGTCA GTTATTTGAGGTCTGTAAGCTGTGTCAGTTATTTGGGGTCTGCGGGCCGT GTCGGTTCGGTTATTTGGGGTCTGTAAGCTGTGTCGGTTATTTGAGGTCT GTGGGCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19004.hp1 NA19012.hp2 HG00544.hp1 NA19004.hp1 NA19012.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0021 a0001c0001 a0005c0021	a0001c0001t0012 a0005c0021t0001 a0001c0001t0012 a0005c0021t0001	a0001c0001t0012g0143 a0001c0001t0012g0171 a0005c0021t0001g0259 a0001c0001t0012g0143 a0001c0001t0012g0171 a0005c0021t0001g0259	3	368	0.0082	307	c.401 others(326): Show c.401+10349_401+10350insGGGCCGCGTCAGTTATTTGGGGTCTG TAAGCTGTGTCAGTTATTTGGGGTCTGCGGGCCGTGTCGGTTCGGTTATT TGGGGTCTGTAAGCTGTGTCGGTTATTTGAGGTCTGTGGGCCACGTCGGT TATTTGAGGTCTGTAAGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGCGT CAGTTATTTGAGGTCTGTAAGCTGTGTCAGTTATTTGGGGTCTGCGGGCC GTGTCGGTTCGGTTATTTGGGGTCTGTAAGCTGTGTCGGTTATTTGAGGT CTGTGGGCCACGTCGGTTATTTGAGGTCTGT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AFAP1_chr4_7753714_7944861	7790660	T T	TAAAAACA others(300): Show TAAAAACACTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0206 a0001c0003t0017g0206	1	318	0.0031	307	c.141 others(326): Show c.1412+3020_1412+3021insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTAAAGTGTTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	11/17			chr4	TogoVar
AGBL4_chr1_48527854_50028954	49680370	T T	TCCTTTCC others(300): Show TCCTTTCCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02622.hp2 HG02717.hp1 others(4): Show HG02132.hp2 HG02622.hp2 HG02717.hp1 HG02922.hp1 HG03492.hp1 NA18962.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0004t0003 a0002c0003t0001	a0001c0001t0002g0056 a0001c0001t0002g0082 a0001c0001t0004g0104 others(4): Show a0001c0001t0002g0056 a0001c0001t0002g0082 a0001c0001t0004g0104 a0001c0001t0012g0055 a0001c0001t0015g0058 a0001c0004t0003g0057 a0002c0003t0001g0059	7	104	0.0673	307	c.282 others(326): Show c.282+16942_282+16943insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAGGAAAGG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGPAT3_chr21_43860223_43992592	43957522	T T	TCCCCTCC others(300): Show TCCCCTCCACACGGGGGTCTCGGGTTTCCCCCTCCACACGGGGGTCTCGG GTTTCCCCCTCCACACGGGGTTTCCCCCTCCACGCGGGGGTCTCGGGTTT CCCCCTGCACACAGGGATCTCGGGTTTCCCCCTCCACACGGGGGTCTCGG GTTTCCCCCTCCACAGGGGGGTCTCGGGTTTCCCCCTCCACACGGGGGTC TCTGGTTTCCCCCTCCACACGGGGTTTCCCCTCCACACGGGGGTCTCGGG TTTCCCCCTGCACATGGGAGTCTCGGGTTTTCCCCTCCACACTGGGGTCT CGGGTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02258.hp1 others(2): Show HG01891.hp1 HG02257.hp2 HG02258.hp1 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0326 a0001c0001t0007g0327 others(2): Show a0001c0001t0007g0192 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0329	5	342	0.0146	307	c.-48 others(324): Show c.-48-1845_-48-1844insAGTCTCGGGTTTTCCCCTCCACACTGGG GTCTCGGGTTTCCCCCTCCACACGGGGGTCTCGGGTTTCCCCCTCCACAC GGGGGTCTCGGGTTTCCCCCTCCACACGGGGTTTCCCCCTCCACGCGGGG GTCTCGGGTTTCCCCCTGCACACAGGGATCTCGGGTTTCCCCCTCCACAC GGGGGTCTCGGGTTTCCCCCTCCACAGGGGGGTCTCGGGTTTCCCCCTCC ACACGGGGGTCTCTGGTTTCCCCCTCCACACGGGGTTTCCCCTCCACACG GGGGTCTCGGGTTTCCCCCTGCACATGGG	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43957522	T T	TCCCCTCC others(300): Show TCCCCTCCACACGGGGGTCTCGGGTTTCCCCCTCCACACGGGGGTCTCGG GTTTCCCCCTCCACACGGGGTTTCCCCCTCCACGCGGGGGTCTCGGGTTT CCCCCTGCACACAGGGATCTCGGGTTTCCCCCTCCACACGGGGGTCTCGG GTTTCCCCCTCCACAGGGGGGTCTCGGGTTTCCCCCTCCACACGGGGGTC TCTGGTTTCCCCCTCCACACGGGGTTTCCCCTCCACACGGGGGTCTCGGG TTTCCCCCTGCACATGGGGGTCTCGGGTTTTCCCCTCCACACTGGGGTCT CGGGTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02615.hp2 others(2): Show HG01257.hp1 HG01258.hp2 HG02615.hp2 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0040 others(1): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0040 a0001c0001t0062	a0001c0001t0003g0085 a0001c0001t0031g0195 a0001c0001t0031g0196 others(2): Show a0001c0001t0003g0085 a0001c0001t0031g0195 a0001c0001t0031g0196 a0001c0001t0040g0007 a0001c0001t0062g0313	5	342	0.0146	307	c.-48 others(324): Show c.-48-2094_-48-1788dupCTCGGGTTTCCCCCTCCACACGGGGGTC TCGGGTTTCCCCCTCCACACGGGGTTTCCCCCTCCACGCGGGGGTCTCGG GTTTCCCCCTGCACACAGGGATCTCGGGTTTCCCCCTCCACACGGGGGTC TCGGGTTTCCCCCTCCACAGGGGGGTCTCGGGTTTCCCCCTCCACACGGG GGTCTCTGGTTTCCCCCTCCACACGGGGTTTCCCCTCCACACGGGGGTCT CGGGTTTCCCCCTGCACATGGGGGTCTCGGGTTTTCCCCTCCACACTGGG GTCTCGGGTTTCCCCCTCCACACGGGGGT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AHNAK2_chr14_104932253_104983374	104933730	G G	GCTGAGGG others(300): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGTGGGAGGGGACCCGCGGCTGAGGGGACAGGGAGGGCGGGAGGGGACCC GCGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGG GGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGAC CCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAG GGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGG ACCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG02257.hp1 others(6): Show HG01255.hp2 HG01884.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG03041.hp2 HG03453.hp1	a0026 a0061 a0062 others(5): Show a0026 a0061 a0062 a0068 a0071 a0073 a0085 a0098	a0026c0042 a0061c0166 a0062c0167 others(5): Show a0026c0042 a0061c0166 a0062c0167 a0068c0169 a0071c0177 a0073c0171 a0085c0172 a0098c0204	a0026c0042t0002 a0061c0166t0002 a0062c0167t0002 others(5): Show a0026c0042t0002 a0061c0166t0002 a0062c0167t0002 a0068c0169t0002 a0071c0177t0002 a0073c0171t0002 a0085c0172t0002 a0098c0204t0002	a0026c0042t0002g0124 a0026c0042t0002g0295 a0061c0166t0002g0293 others(6): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0061c0166t0002g0293 a0062c0167t0002g0230 a0068c0169t0002g0071 a0071c0177t0002g0144 a0073c0171t0002g0140 a0085c0172t0002g0296 a0098c0204t0002g0292	9	356	0.0253	307	c.43 others(318): Show c.4332_*4333insTCGCAGGTCCCCTCCCGCCCTCCCGGTCCCCTCA GCCCCGCTCCCCTCCCACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCGGTCCCCTCAGCCGCGGGTCCCCTCCCGCCCTCCCTGTCCC CTCAGCCGCGGGTCCCCTCCCACCCTCCCCTCACTCAGCCGCGGGTCCCC TCCCGCCCTCCCTGTCCCCTCAG	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3522		chr14	TogoVar
AHRR_chr5_316714_443285	344666	G G	GTGTGTGT others(300): Show GTGTGTGTGTGTGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCT GTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	268	0.0037	307	c.62+ others(320): Show c.62+712_62+713insTGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTG TGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGT GTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANK2_chr4_113044653_113388736	113097093	T T	TCACTTTT others(300): Show TCACTTTTCCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	178	0.0056	307	c.84+ others(324): Show c.84+47296_84+47297insTTTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCACTTTTCCTTTTTT	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKLE2_chr12_132720503_132766832	132758943	C C	CTGCGGAG others(300): Show CTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCACCCCGGGGCACCCACGTGGTAGAGAGGATCGCTGCGGAGTGGC ACCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCTG GGGCACCCATGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGTGGATCGCACAGCGTGGCACCCCGGGGCACCCACGTG GCAGAGAGGATCGCGTGGACTGGCACCCCGGGGCACCCACGTGGCAGAGA GGATCGCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01081.hp1 others(2): Show HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01517.hp2 HG02148.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0024 a0002c0002 a0016c0024	a0002c0002t0001 a0016c0024t0001 a0002c0002t0001 a0016c0024t0001	a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0020 others(1): Show a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0020 a0016c0024t0001g0042	5	350	0.0143	307	c.181 others(324): Show c.181+2674_181+2675insAGCGATCCTCTCTGCCACGTGGGTGCCC CGGGGTGCCAGTCCACGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTG CCACGCTGTGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCC GCAGCGATCCACTCTGCCACATGGGTGCCCCAGGGTGCCACTCCGCAGCG ATCCACTCTGCCACGTGGGTGCCCCAGGGTGCCACTCCGCAGCGATCCTC TCTACCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCC ACGTGGGTGCCCCGGGGTGCCACTCCGCA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759203	C C	CGCTGCGG others(300): Show CGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGC GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTG GCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCC GGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCA CCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCACA TGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGA GAGGATCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0321 a0003c0023t0001g0321	1	350	0.0029	307	c.181 others(324): Show c.181+2414_181+2415insCGATCCTCTCTGCCACGTGGGTGCCCCG GGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCC ACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCG CAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAAT CCACTCTGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTC TGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCAC GTGGGTGCCCCGGGGTGCCACTCCGCAGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANO3_chr11_26327130_26668289	26580099	T T	TTTTTTTT others(300): Show TTTTTTTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCAGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19065.hp2 HG02027.hp1 NA19065.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0087 a0001c0009t0004g0167 a0001c0009t0004g0087 a0001c0009t0004g0167	2	190	0.0105	307	c.144 others(328): Show c.1448-18266_1448-18265insTTTTTTTTTTTCTTTTTCTTTTTC TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26			chr11	TogoVar
ANO3_chr11_26327130_26668289	26580099	T T	TTTTTTTT others(300): Show TTTTTTTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04228.hp2 NA18977.hp2 others(3): Show HG02165.hp1 HG04228.hp2 NA18977.hp2 NA19002.hp1 NA19054.hp1 NA19055.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0013 a0001c0004 a0001c0006 a0001c0013	a0001c0004t0004 a0001c0004t0017 a0001c0006t0010 others(1): Show a0001c0004t0004 a0001c0004t0017 a0001c0006t0010 a0001c0013t0004	a0001c0004t0004g0090 a0001c0004t0004g0118 a0001c0004t0004g0162 others(3): Show a0001c0004t0004g0090 a0001c0004t0004g0118 a0001c0004t0004g0162 a0001c0004t0017g0069 a0001c0006t0010g0073 a0001c0013t0004g0098	6	190	0.0316	307	c.144 others(328): Show c.1448-18266_1448-18265insTTTTTTTTTTTCTTTTTCTTTTTC TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26			chr11	TogoVar

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Search Results (Total: 10000 hits)