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
NEU4_chr2_241804193_241822413	241807033	CTCAGCCC others(455): Show CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCC CCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	319	0.0031	-462	c.-22 others(11): Show c.-2244_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2159		chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686258	CAGAACAG others(455): Show CAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	362	0.0028	-462	c.981 others(17): Show c.981+1292_981+1753del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686591	CAGAACAG others(455): Show CAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGC TGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	362	0.0055	-462	c.981 others(16): Show c.981+959_981+1420del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686812	GCCCCCAG others(455): Show GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGG AGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03942.hp1 NA18944.hp2 others(2): Show HG03239.hp2 HG03942.hp1 NA18944.hp2 NA18978.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0076 a0001c0001t0002g0147 a0001c0001t0002g0323 others(2): Show a0001c0001t0002g0076 a0001c0001t0002g0147 a0001c0001t0002g0323 a0002c0002t0001g0116 a0002c0002t0002g0164	5	362	0.0138	-462	c.981 others(16): Show c.981+738_981+1199del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686880	GCCCCCAG others(455): Show GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGC CTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACGCACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19083.hp1 NA19085.hp2 NA19066.hp2 NA19083.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0149 a0001c0001t0002g0008 a0001c0001t0002g0149	3	362	0.0083	-462	c.981 others(16): Show c.981+670_981+1131del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCBP3_chr21_45638725_45947450	45924160	TGAACACT others(455): Show TGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGGTCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02809.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0090 a0001c0001t0003g0098	2	292	0.0069	-462	c.718 others(17): Show c.718-5750_718-5289del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924311	CGTGGGTA others(455): Show CGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAAC ACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACGGTCGA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA20905.hp2 HG03490.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0133 a0001c0001t0001g0134	2	292	0.0069	-462	c.718 others(17): Show c.718-5540_718-5079del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCMT1_chr6_149744741_149816419	149762816	AATCTATG others(455): Show AATCTATGATATATATGATATATATATCTATGATATATATCTATGATATA TATATCTATGATATATATGTTATATATATCTATGATATATATCTATGATA TATATATCTATGATATATATGATATATATATCTATGATATGTATATCTAT GATATATATGATATATATATCTATGATATATATGATATATATATCTATGA TATATATGATATATCTATGATATCTATGATATGTATATCTATGATATATA TATCTATGATATGTATATCTATGATATATATGATATATATATCTATGATA TGTATATCTATGATATATATGATATATATATCTATGATATATATCTATGA TATCTATGATATATATCTATGATATCTATGATATATATATCTATGATATC TATGATATAAATATCTATGATATCTATGATATATATATCTATGATATCTA TGATATAAATATC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03831.hp1 HG03516.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0320 a0001c0001t0004g0220 a0001c0001t0001g0320 a0001c0001t0004g0220	2	334	0.0060	-462	c.56- others(15): Show c.56-8345_56-7884del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
PROZ_chr13_113153648_113177386	113161930	CCATCCTC others(455): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCT CGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	378	0.0027	-462	c.260 others(16): Show c.260-1014_260-553del	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162308	ACATCCTC others(455): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	378	0.0027	-462	c.260 others(15): Show c.260-668_260-207del	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
RAN_chr12_130867066_130882678	130882216	CTCACCTC others(455): Show CTCACCTCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGT GGTCTCCATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCC ATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTACT CCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGAT CTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACCACAGATCCGC GTAGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTCCTCCT CCGTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGTACT CCCGAGAGTGCCTCCTCCATCACCACAGATCCGCGTAGCCTGCATCACTG ATCTCACCTCTAGGTACTCCTGAGAACTCCTCCTCTGTCTGTGGATCTGC GTGGTCTCCATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(119): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0002g0002 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0006g0002 a0001c0001t0008g0011 a0001c0001t0022g0002 a0001c0001t0023g0027 a0001c0001t0024g0002	122	426	0.2864	-462	c.62 others(11): Show c.6291_*6752del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4539		chr12	TogoVar
SLC12A7_chr5_1045384_1117063	1070250	GGGCATCA others(455): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCAC ACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0054 a0001c0035t0001g0054	1	118	0.0085	-462	c.224 others(19): Show c.2241+2921_2241+3382del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070934	TATCACAC others(455): Show TATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0021 a0001c0017t0004g0021	1	118	0.0085	-462	c.224 others(19): Show c.2241+2237_2241+2698del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79909588	ACCAGTCT others(455): Show ACCAGTCTCCAACCTTCCCCAGCATCTCACCACAGAGTCCGCAACCTTCC CCACATCCTCACCATAGAGTCCCCAACCTTCCCCACCATCTCACAACAGA GTCCCCAACCTTCCCCACCATCTCACAACAGAGTCCCCAACCTTCCCCAC CACCTCACCAGAGTCCCCAACCTTCCCCACATCCTCACCATAGAGTCCCC AACCTTCCCCACCATCTCACAAGAGTCCCCAACCTTCCCCACCACCTCAC CAGAGTCCCCAGGCTTCCCCACCATCTCACCACAGAGTCCCCAACCTTCC CCACACCCTCACCATAGAGTCCCCAACCTTCCCCACCATCTCACCACAGT CCCCAACCTTCCCCACAACCTCACCAGAGTCCCCAGCCTTCCCTACAACC TCACCAGAGTCCCCAGCCTTCCCCACACCCTCACCAGAGTCCCCAGACTT CCCCACACCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG02280.hp1 others(4): Show HG01069.hp1 HG01884.hp2 HG02280.hp1 HG02717.hp2 HG02976.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0151 a0001c0001t0007g0172 a0001c0001t0007g0271 others(4): Show a0001c0001t0007g0151 a0001c0001t0007g0172 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0007g0278	7	352	0.0199	-462	c.609 others(17): Show c.609-5867_609-5406del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SYTL3_chr6_158645054_158769871	158704814	AGTGACAG others(455): Show AGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCA GGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGC AGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGG CAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGGG GCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGG GGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACCTG GGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACC CAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGAC CTGGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGG ACCTGGGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp2 others(49): Show HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01934.hp2 HG02109.hp2 HG02132.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18969.hp2 NA18983.hp1 NA19043.hp1 NA19062.hp2 NA19070.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0010	a0001c0001 a0001c0010 a0002c0002 others(7): Show a0001c0001 a0001c0010 a0002c0002 a0002c0005 a0002c0011 a0003c0004 a0003c0006 a0004c0003 a0007c0009 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0010t0001 a0002c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0011t0001 a0003c0004t0001 a0003c0006t0001 a0004c0003t0001 a0007c0009t0001 a0010c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0018 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0004g0014 a0001c0001t0007g0056 a0001c0001t0008g0166 a0001c0010t0001g0036 a0002c0002t0001g0057 a0002c0005t0001g0001 a0002c0005t0001g0044 a0002c0005t0001g0048 a0002c0005t0001g0069 a0002c0005t0001g0221 a0002c0005t0001g0224 a0002c0005t0001g0226 a0002c0005t0002g0010 a0002c0011t0001g0144 a0003c0004t0001g0068 a0003c0004t0001g0165 a0003c0004t0001g0201 a0003c0004t0001g0222 a0003c0004t0001g0270 a0003c0006t0001g0228 a0004c0003t0001g0162 a0004c0003t0001g0167 a0004c0003t0001g0168 a0004c0003t0001g0186 a0004c0003t0001g0187 a0007c0009t0001g0158 a0010c0017t0001g0198	52	292	0.1781	-462	c.395 others(17): Show c.395-2373_395-1912del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TRIP13_chr5_887884_923120	898005	GCAGTCAG others(455): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	402	0.0025	-462	c.388 others(17): Show c.388+1607_389-1632del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898401	TCAGTCAG others(455): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0002c0004 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0007t0001 a0001c0009t0001 a0002c0004t0001 a0005c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0001 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0007g0072 a0001c0007t0001g0003 a0001c0009t0001g0005 a0002c0004t0001g0053 a0005c0011t0001g0006	178	402	0.4428	-462	c.388 others(17): Show c.388+1739_389-1500del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898797	TCAGTCAG others(455): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	402	0.0025	-462	c.389 others(17): Show c.389-1631_389-1170del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	GCGAGGGA others(455): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02809.hp1 others(1): Show HG01243.hp2 HG02451.hp1 HG02809.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0281 a0001c0001t0001g0283 others(1): Show a0001c0001t0001g0253 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0301	4	324	0.0124	-462	c.57 others(11): Show c.5704_*6165del	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
ZNF398_chr7_149142453_149188042	149186713	TGGGTTCA others(455): Show TGGGTTCAAGAGATTGTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACA GGCGACACCACACCCAGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTT ACCATGTTGGCTAGGCTAGTCCTGAATTCCTGACCTCAGGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCG GCCCGCGTAAAGCATTTTTAATGTTTTTGTAAGAATAAGGATTATTGTCA TGAAAAAGGTCCTGGAAAACAAGTCAGGAGGCCAGAGTTTTAACCTTGCT TTCAGTTTTCTCATTCATAATGTGAGGATAATACCTAGTTTACGAAGGTG TTGTGAAGATCAAATGAGGAAAGTTTTTTTTTTTTTTTGAGATGGAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCA ACCTCTGCCTCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0243 a0002c0003t0004g0243	1	314	0.0032	-462	c.69 others(11): Show c.6913_*7374del	ZNF398	ENSG00000197024.9	transcript	ENST00000475153.6	protein_coding		3672		chr7	TogoVar
ZNF77_chr19_2928218_2949971	2928237	AAAAAAAA others(455): Show AAAAAAAAAAAAAAAAAAAAGAGAAAATAGAGGCCAAGCACGCTGGCTTA TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCCCTTTAG CTCAAGAGTTCGAGACCACCGTGGGCAACATGGCGAAACCCTGTCTCTTT TTTTTTTTTTTTTTAATAATTAAAAAGAAGAAGACCAGGCATGGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCAGCTGGATCGGTTGA GGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTA CTAAAAATACAAAATTAGCTGGGCATGGTGGTGTACGCCTGTAATCCCAG CTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAAGCCGGCAGGTGGATG TTGCAGTGAGCCAAGATCTCACCAGTGCACTCCAGCCTGGGTGAAGCAGC AAGACTCCATCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0131 a0007c0013t0001g0132 a0007c0013t0001g0131 a0007c0013t0001g0132	2	448	0.0045	-462	c.47 others(11): Show c.4790_*5251del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding		4980		chr19	TogoVar
ZNF77_chr19_2928218_2949971	2928383	CTTTTTTT others(455): Show CTTTTTTTTTTTTTTTTTAATAATTAAAAAGAAGAAGACCAGGCATGGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCAGCTGGATCGG TTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCTGTC TCTACTAAAAATACAAAATTAGCTGGGCATGGTGGTGTACGCCTGTAATC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAAGCCGGCAGGTG GATGTTGCAGTGAGCCAAGATCTCACCAGTGCACTCCAGCCTGGGTGAAG CAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAGAAAATAGAGGCCAA GCACGCTGGCTTATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGA TGGATCCCTTTAGCTCAAGAGTTCGAGACCACCCTGGGCAACATGGCGAA ACCCTGTCTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	448	0.0022	-462	c.46 others(11): Show c.4644_*5105del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding		4834		chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44227293	GGTGGGGG others(454): Show GGTGGGGGACAGAGGAGAGTATGGGGGACAGAGGGGGTGTGGGGGACAGA AGGGGGTGTGGAAGACAGGAGGTGTGGGGGACAGACGGAGTGTGGGGGAC AGAGGGAGAGTCTGGGGGACAGAGGGGGTGTGGGGGACAGGAGGGGGTGT GGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGGGCAGGGGG TGGAGGACAGAGGAGGGTGTGGGGGACAGAGGGGGATATGGGGGACAGAG GGAGTGTAGGGGACAGAGGAGGGTCTGGGGGGCAGAGGGAGAGTGTGGGG GACAGGGGGTGTGGGGGACAGAGGGAGTGTGGGGGACAGAGGAGGGTCTG GAGGACAGAGGGAGAGTGTAGGGAACAGAGGGGGTGTGGGGGACAGAAAA GGGCGTGAAGGGACCAAGGTGGGTGTGGGGGACAGAGGGGTATATGGGGG ACAGAGGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG00738.hp2 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0007t0006 a0001c0003t0002 a0001c0007t0006	a0001c0003t0002g0042 a0001c0007t0006g0072 a0001c0003t0002g0042 a0001c0007t0006g0072	2	242	0.0083	-461	c.146 others(18): Show c.1468+1042_1469-650del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CSMD1_chr8_2930361_4999914	3795563	CATAGATA others(454): Show CATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATA GATATAGATATATATCTATCATGTATAGATATAGATATATATCTATCATA GATATAGATATATATCTATCATGTATAGATATAGATATATATCTATCAAG TACAGCTATAGATATCTATCATGTACAGCTATAGATACCTATCATGTACA GCTATAGATACCTATCATGTACAGATATAGATATATACCTATCATGTACA GATATAGATATATATCTATCATGTACAGATATAGATATATATCTATCATG TACAGATATAGATATATATCTATCATGTACAGATATATATATCATGTACA GATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACAGATA TAGATATCTATCATGTACAGATATAGATATATATCTATCATGTATATAGA TATATATCATGT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19060.hp1 NA18982.hp1 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0086 a0001c0007 a0004c0086	a0001c0007t0001 a0004c0086t0002 a0001c0007t0001 a0004c0086t0002	a0001c0007t0001g0035 a0004c0086t0002g0118 a0001c0007t0001g0035 a0004c0086t0002g0118	2	126	0.0159	-461	c.819 others(19): Show c.819-41982_819-41522del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24358705	TTATATAT others(454): Show TTATATATATATTTTATATATTTTATTTTATATATATTTTATTTATTTAT TTATATATTATATATTTTTATATATAATATATAAAATATATATTTTATAT ATTATATATAAATATATATATTATATTTATATATATATTTATATATTATA TATAATATATATAATATATATGTATTATATATATTTATATATATAATATA TTATATATTATATATATTATATATTATATATTTTATATATTATATATTAT ATATTATATATTATATATTTTATACATTATATATTATATATTATATATTT TATATATTATATATTTTATATTTTATATTTTATATATATTATATATTTTA TATATCATATATATTATATATCATATATTTTTATATATTATATATTTTAT ATATTATATATTATATATATTATATATTTTATATATATTATATATTTTAT ATATTTTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02622.hp1 HG02630.hp2 others(3): Show HG01943.hp2 HG02622.hp1 HG02630.hp2 HG03453.hp1 HG03579.hp2 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0001 a0002c0012t0001 a0003c0003t0005 others(1): Show a0002c0002t0001 a0002c0012t0001 a0003c0003t0005 a0003c0003t0012	a0002c0002t0001g0172 a0002c0012t0001g0170 a0003c0003t0005g0173 others(3): Show a0002c0002t0001g0172 a0002c0012t0001g0170 a0003c0003t0005g0173 a0003c0003t0005g0174 a0003c0003t0005g0175 a0003c0003t0012g0171	6	216	0.0278	-461	c.-14 others(10): Show c.-1416_-956del	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		647		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806995	CCCCTCAG others(454): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	314	0.0032	-461	c.28 others(11): Show c.2830_*3290del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2709		chr2	TogoVar
GRIN1_chr9_137134154_137173756	137144743	AGTGAGAG others(454): Show AGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGGGTGGTAG GGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAAGTGTCCCC AGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGAGTCTAGAA AGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGG TCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGGAAGGGGGT CCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGGA AGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACCGGGGT GAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAGGGGTGGGGA CCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGT GTGGGGACCGGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	298	0.0034	-461	c.394 others(15): Show c.394-941_394-481del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144785	GGTGGTAG others(454): Show GGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAA GTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGA GTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGG TCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGG AAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAG TGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGG ACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAGG GGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCC CCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCCAGAA AGTGTCCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	298	0.0034	-461	c.394 others(15): Show c.394-939_394-479del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
N4BP2_chr4_40051850_40163252	40059212	GCAACCAT others(454): Show GCAACCATTTATTAGTTAATGAATTTCAGAAAAATAGCTATCTACCTTCT TTGCTTTCCTTTCAGCTTTTTATATGCAAAATCATATTGTAAGTCTTGGG AAGAATCAGTTGTCTATTAAATGCCTTTAGAAGTAGTTTATGTTAGGAAT TTAAGAAGAGATTGAGCATTTTTTATGTATGTATGTATGTATGTATTTTG AGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GTCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCTCAACACCACACCTG GCTAACTTCTGTATTTTTAGTAGGGATGGGTTTTTGTCATGTTGGTGAGG CTGGTCTGTAACTCCTGGCCTCAAGTGATCCGCCCGCTTTGGCCTCCCAA AGTGCTAGGATTACAGACATGAGCCACCCCGCCTGGCCTTAGATTGAACA CTTTTTTGATAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0257 a0001c0001t0077g0257	1	366	0.0027	-461	c.-21 others(19): Show c.-212+2184_-212+2644del	N4BP2	ENSG00000078177.15	transcript	ENST00000261435.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
NCAPG2_chr7_158626169_158709804	158667521	CTCCTTAC others(454): Show CTCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCC TGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGG GTCCCTCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	378	0.0027	-461	c.148 others(19): Show c.1480-3232_1480-2772del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241806992	TCCCCCCT others(454): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCC AGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	319	0.0031	-461	c.-22 others(11): Show c.-2285_-1825del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2200		chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686046	CCCCCCGC others(454): Show CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	362	0.0028	-461	c.981 others(17): Show c.981+1505_981+1965del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RASA3_chr13_113972783_114137623	114006924	CCCTCCTG others(454): Show CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCT GCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCT TACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCC CACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGC TGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCT CCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCG CCCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCTCCTGCCC TGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCA CCTTACCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	-461	c.174 others(17): Show c.1742+148_1742+608del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120137	ATCAGGGC others(454): Show ATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCTCCCT CCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGG CGTCGATCAGGGCCCCCCCTCCTCTCTCCAGCCAGACGTCGGTCAGGGCC CCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCTCCCTCCTCTCTCCA GCCAGCCAGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCG ATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCTCCCT CCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGG CGTCGATCAGGGCCCCCCCTCCTCTCTCCAGCCAGACGTCGGTCAGGGCC CCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCTCCCTCCTCTCTCCA GCCAGACGTCGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG01175.hp2 others(4): Show HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01433.hp1 HG03130.hp2 HG03490.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0007t0002 a0001c0009t0008 a0001c0001t0001 a0001c0007t0002 a0001c0009t0008	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0007t0002g0063 a0001c0009t0008g0048	7	67	0.1045	-461	c.55+ others(17): Show c.55+11837_55+12297del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(454): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01169.hp1 HG01192.hp1 others(16): Show HG00099.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG02165.hp2 HG02559.hp2 HG02630.hp2 HG02922.hp1 HG02976.hp1 HG03831.hp2 NA18945.hp2 NA18950.hp1 NA18964.hp2 NA18970.hp2 NA18983.hp1 NA19002.hp2 NA19043.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0055 a0001c0003t0020 a0002c0002t0001 a0002c0002t0004 a0002c0011t0001	a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0113 others(16): Show a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0003g0072 a0001c0001t0003g0134 a0001c0001t0004g0047 a0001c0001t0006g0060 a0001c0001t0007g0142 a0001c0001t0008g0012 a0001c0001t0008g0015 a0001c0001t0013g0053 a0001c0001t0055g0083 a0001c0003t0020g0089 a0002c0002t0001g0156 a0002c0002t0001g0162 a0002c0002t0001g0169 a0002c0002t0004g0163 a0002c0011t0001g0164	19	172	0.1105	-461	c.573 others(19): Show c.573+69221_573+69681del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79920579	CGGGAACC others(454): Show CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAG AGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAG GAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAG GTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAG TGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0285 a0001c0001t0008g0285	1	352	0.0028	-461	c.392 others(17): Show c.392-1640_392-1180del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TUBGCP2_chr10_133273635_133313872	133291249	CCCATGTC others(454): Show CCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCAT GTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCT CCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGT CCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0248 a0002c0003t0001g0248	1	284	0.0035	-461	c.121 others(18): Show c.1214+789_1214+1249del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TWIST2_chr2_238843085_238915534	238880311	GTGTTGGT others(454): Show GTGTTGGTATTTATTATTATTAGTGTTAGTGTCAGTATTAGTGTTAGTAT TTATTTGTGTTAGCATTAGTATTAATGTTAGTGTTAGTATTTATTAGTGT TAGTGTTGGTAATATTTATTAGCATTAGTGTTAGTGTTAGTATTTATTAG TATTAGTTACTATTTATTAGTGTCAGTGTTAGTGTTAGTGTCAGCATTAG TATTAGTGTGTTAGTATTGGTATTAGTGTTAGTGTTAGTATTTATTAGTA TTAGTATTACTGTTAGTATTAGTATTAGTGTTATGTTAGTATTAGTGTTA GTATTTATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTCAGTAT TAGTATTAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCATTA GTATTAATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAATAT TAGCATTAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02965.hp1 others(1): Show HG02615.hp1 HG02647.hp1 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0184 a0001c0001t0001g0319 a0001c0001t0001g0321 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0002g0318	4	338	0.0118	-461	c.36 others(19): Show c.36-29530_*36-29070del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ZNF77_chr19_2928218_2949971	2928538	TAAAAATA others(454): Show TAAAAATACAAAATTAGCTGGGCATGGTGGTGTACGCCTGTAATCCCAGC TACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAAGCCGGCAGGTGGATGT TGCAGTGAGCCAAGATCTCACCAGTGCACTCCAGCCTGGGTGAAGCAGCA AGACTCCATCTCAAAAAAAAAAAAAAAAGAGAAAATAGAGGCCAAGCACG CTGGCTTATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGATGGAT CCCTTTAGCTCAAGAGTTCGAGACCACCCTGGGCAACATGGCGAAACCCT GTCTCTTTTTTTTTTTTTTTTTTAATAATTAAAAAGAAGAAGACCAGGCA TGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCAGCTGC ATCGGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACC CTGTCTCTACTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	448	0.0022	-461	c.44 others(11): Show c.4490_*4950del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding		4679		chr19	TogoVar
ZNF77_chr19_2928218_2949971	2928699	CAAAAAAA others(454): Show CAAAAAAAAAAAAAAAAGAGAAAATAGAGGCCAAGCACGCTGGCTTATGC CTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGATGGATCCCTTTAGCTC AAGAGTTCGAGACCACCCTGGGCAACATGGCGAAACCCTGTCTCTTTTTT TTTTTTTTTTTTAATAATTAAAAAGAAGAAGACCAGGCATGGTGGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCAGCTGCATCGGTTGAGG TCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTACT AAAAATACAAAATTAGCTGGGCATGGTGGCGTACACCTGTAATCCCAGCT ACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAAGCCGGCAGGTGGATGTT GCAGTGAGCCAAGATCTCACCAGTGCACTCCAGCCTGGGTGAAGCAGCAA GACTCCATCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02074.hp2 others(13): Show HG00423.hp1 HG00597.hp2 HG02074.hp2 HG02135.hp1 NA18939.hp1 NA18941.hp1 NA18951.hp2 NA18957.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18994.hp2 NA19005.hp1 NA19063.hp1 NA19065.hp1 NA19077.hp1	a0001 a0014 a0001 a0014	a0001c0003 a0014c0027 a0001c0003 a0014c0027	a0001c0003t0002 a0014c0027t0002 a0001c0003t0002 a0014c0027t0002	a0001c0003t0002g0008 a0001c0003t0002g0011 a0001c0003t0002g0085 others(12): Show a0001c0003t0002g0008 a0001c0003t0002g0011 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0113 a0001c0003t0002g0119 a0001c0003t0002g0122 a0001c0003t0002g0163 a0001c0003t0002g0198 a0001c0003t0002g0342 a0001c0003t0002g0345 a0001c0003t0002g0349 a0001c0003t0002g0388 a0001c0003t0002g0399 a0014c0027t0002g0156	16	448	0.0357	-461	c.43 others(11): Show c.4329_*4789del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding		4518		chr19	TogoVar
AFDN_chr6_167821911_167977023	167941081	ATGAGGGT others(453): Show ATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGAT GTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACAC AGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGG ACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAG ATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACA GGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAAC CATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGG GTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	326	0.0031	-460	c.310 others(19): Show c.3100-2020_3100-1561del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARHGAP20_chr11_110572043_110717437	110618871	AGTATATG others(453): Show AGTATATGCAGTGATAGAGTATATGCAGTGGTAGAGTATATGCAGTGATA GAGTATATGCAGTGATAGAGTATATGCAGTGAGAGTGTATGCAGTGATAG AGTATATGCAGTGATAGCATATATGTAGTGATAGAGTGTATGCAGTGATA GAGTGTATGCAGTGATAGAGTGTATGCAGTGATAGAGTATATGCAGTGAT AGCATATATGTAGAGTGTATGCAGTGATAGAGTATATGCAGTGATAGAGT ATATGCAGTGGTAGAGTATATGCAGTGATAGAGTATATGCAGTGATAGAG TATATGCAGTGAGAGTGTATGCAGTGATAGAGTATATGCAGTGATAGCAT ATATGTAGTGATAGAGTGTATGCAGTGATAGAGTGTATGCAGTGATAGAG TGTATGCAGTGATAGAGTATATGCAGTGATAGCATATATGTAGAGTGTAT GCAGTGATAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(75): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00621.hp2 HG00673.hp1 HG01074.hp1 HG01099.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18962.hp2 NA18972.hp2 NA18983.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19067.hp1 NA19078.hp1 NA19082.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0009 a0012 a0013	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0002c0003 a0002c0006 a0002c0014 a0003c0004 a0006c0007 a0008c0017 a0009c0015 a0012c0019 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0002t0005 a0001c0005t0005 a0001c0013t0003 a0002c0003t0007 a0002c0006t0012 a0002c0014t0019 a0003c0004t0002 a0003c0004t0017 a0006c0007t0010 a0008c0017t0002 a0009c0015t0004 a0012c0019t0004 a0013c0021t0005	a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0210 others(73): Show a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0210 a0001c0001t0002g0102 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0003g0001 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0079 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0198 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0006g0156 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0019 a0001c0001t0008g0088 a0001c0001t0011g0017 a0001c0001t0011g0018 a0001c0001t0018g0095 a0001c0002t0005g0209 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0005g0214 a0001c0002t0005g0215 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0005t0005g0142 a0001c0005t0005g0197 a0001c0013t0003g0092 a0002c0003t0007g0150 a0002c0003t0007g0202 a0002c0003t0007g0203 a0002c0003t0007g0208 a0002c0006t0012g0140 a0002c0014t0019g0207 a0003c0004t0002g0144 a0003c0004t0017g0145 a0006c0007t0010g0147 a0006c0007t0010g0148 a0008c0017t0002g0141 a0009c0015t0004g0153 a0012c0019t0004g0151 a0013c0021t0005g0220	78	226	0.3451	-460	c.504 others(17): Show c.504-3737_504-3278del	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	4/14			chr11	TogoVar
ARHGAP20_chr11_110572043_110717437	110618906	GTATATGC others(453): Show GTATATGCAGTGATAGAGTATATGCAGTGATAGAGTATATGCAGTGAGAG TGTATGCAGTGATAGAGTATATGCAGTGATAGCATATATGTAGTGATAGA GTGTATGCAGTGATAGAGTGTATGCAGTGATAGAGTGTATGCAGTGATAG AGTATATGCAGTGATAGCATATATGTAGAGTGTATGCAGTGATAGAGTAT ATGCAGTGATAGAGTATATGCAGTGGTAGAGTATATGCAGTGATAGAGTA TATGCAGTGATAGAGTATATGCAGTGAGAGTGTATGCAGTGATAGAGTAT ATGCAGTGATAGCATATATGTAGTGATAGAGTGTATGCAGTGATAGAGTG TATGCAGTGATAGAGTGTATGCAGTGATAGAGTATATGCAGTGATAGCAT ATATGTAGAGTGTATGCAGTGATAGGGTATATGCAGTGATAGAGTATATG TAGTGATAGCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0031 a0001c0001t0014g0006 a0001c0001t0002g0031 a0001c0001t0014g0006	2	226	0.0089	-460	c.504 others(17): Show c.504-3772_504-3313del	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	4/14			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15932003	AGGAGAGG others(453): Show AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0127 a0003c0003t0127	a0003c0003t0127g0089 a0003c0003t0127g0089	1	386	0.0026	-460	c.198 others(17): Show c.198+1748_198+2207del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932489	GGAATGAG others(453): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	386	0.0026	-460	c.198 others(17): Show c.198+1262_198+1721del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933289	GGAATGAG others(453): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0196 a0002c0001t0014g0196	1	386	0.0026	-460	c.198 others(15): Show c.198+462_198+921del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933405	GAGAGGAA others(453): Show GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18973.hp1 HG02258.hp1 NA18973.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0138 a0004c0007t0031 a0001c0002t0138 a0004c0007t0031	a0001c0002t0138g0228 a0004c0007t0031g0209 a0001c0002t0138g0228 a0004c0007t0031g0209	2	386	0.0052	-460	c.198 others(15): Show c.198+346_198+805del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DLGAP2_chr8_732628_1713476	1406869	CGTCCTCC others(453): Show CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTC CTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCC GGAGTCGTGTATTGAGAGCTTACTGAGCACTCCCTCCTTGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGT GTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAG AGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-460	c.107 others(19): Show c.107-94473_107-94014del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC1_chr12_986223_1500931	1122167	GTGTCTCT others(453): Show GTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0097 a0002c0002t0017g0097	1	162	0.0062	-460	c.156 others(19): Show c.1569+6136_1569+6595del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806947	CCACCTTC others(453): Show CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 NA19064.hp1 HG02486.hp2 NA19064.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0001 a0003c0007t0001 a0002c0002t0001 a0003c0007t0001	a0002c0002t0001g0003 a0003c0007t0001g0042 a0002c0002t0001g0003 a0003c0007t0001g0042	2	314	0.0064	-460	c.27 others(11): Show c.2782_*3241del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2661		chr2	TogoVar

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Search Results (Total: 10000 hits)