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
APOBEC3H_chr22_39092244_39109067	39107567	AATTCTCC others(292): Show AATTCTCCTGCCTCAGCCTCCTATGTAGCTGGAATCACAGGCGCCCACCA CCATGCCCAGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCTTG TTGGCCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGCATGAGCCACCACAGCTGACCCTTT TTTTGTTTGTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTG CAGTGGCGTGACCTTGGCTCGCTAGAACCTCCGCCTCCCGGGTTCAAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03130.hp1 HG03486.hp1 HG02818.hp2 HG03130.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0006 a0007c0006t0006	a0007c0006t0006g0044 a0007c0006t0006g0045 a0007c0006t0006g0046 a0007c0006t0006g0044 a0007c0006t0006g0045 a0007c0006t0006g0046	3	418	0.0072	-299	c.38 others(11): Show c.3871_*4169del	APOBEC3H	ENSG00000100298.16	transcript	ENST00000442487.8	protein_coding		3501		chr22	TogoVar
ARSF_chrX_3036471_3117727	3036863	AATATTAT others(292): Show AATATTATATAAAATATATATAATATATATATATTATATATATTATATAT AATATTATATATAATATATATAATATATATATATTATATATATAAAATAT TATATATAATATTATATATTATATATATATATTATATATATAAAATATTA TATATAATATTATATATAATATATATATTATATATATAAAATATTATATA TAATATTATATATAAAATATATATAATATATATAATATTATATATAAAAT ATATATAATATATATAATATTATATATAAAATATATATAATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02809.hp1 NA20129.hp1 others(1): Show HG02280.hp1 HG02809.hp1 NA20129.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0004c0011 a0001c0001 a0001c0010 a0004c0011	a0001c0001t0001 a0001c0010t0001 a0004c0011t0001 a0001c0001t0001 a0001c0010t0001 a0004c0011t0001	a0001c0001t0001g0032 a0001c0010t0001g0030 a0001c0010t0001g0037 others(1): Show a0001c0001t0001g0032 a0001c0010t0001g0030 a0001c0010t0001g0037 a0004c0011t0001g0031	4	193	0.0207	-299	c.-48 others(11): Show c.-4828_-4530del	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4607		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036863	AATATTAT others(292): Show AATATTATATAAAATATATATAATATATATATATTATATATATTATATAT AATATTATATATAATATATATAATATATATATATTATATATATAAAATAT TATATATAATATTATATATTATATATATATATTATATATATAAAATATTA TATATAATATTATATATAATATATATATTATATATATAAAATATTATATA TAATATTATATATAAAATATATATAATATATATAATATTATATATAAAAT ATATATAATATATATAATATTATATATAAAATATATATAATATATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02809.hp2 NA20129.hp2 others(1): Show HG02280.hp2 HG02809.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0232 a0001c0002t0002g0233 others(1): Show a0001c0002t0002g0229 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234	4	248	0.0161	-299	c.34 others(11): Show c.3479_*3777del	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2753		chrX	TogoVar
ART1_chr11_3640128_3669416	3643250	TAGAAAAA others(292): Show TAGAAAAACAGCTCCAGGGCAGGGCGCAGTGGCTCCCGCCTGTAATCCCA GCACTTTGGGAGGCTGAAGTGGGAGGATCACGAGGTCAGGAGTTCGGGAC CAGCCTGGCCAACAAAGATTAGCCGGGCGTGGTGGCAGGGGCCTGTAATC CCAGCTACTTGGGTGGCTGAGGCAGGAGAATCGCCTGAAACCGGAAGGTG GAGATTGCAGTGAGCTGAGATGGAGCCACTGCACTCCAGCCTGGGCAAAA GGGCGAAACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGAAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	394	0.0025	-299	c.-19 others(11): Show c.-1981_-1683del	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding		1877		chr11	TogoVar
ART5_chr11_3633512_3646992	3643250	TAGAAAAA others(292): Show TAGAAAAACAGCTCCAGGGCAGGGCGCAGTGGCTCCCGCCTGTAATCCCA GCACTTTGGGAGGCTGAAGTGGGAGGATCACGAGGTCAGGAGTTCGGGAC CAGCCTGGCCAACAAAGATTAGCCGGGCGTGGTGGCAGGGGCCTGTAATC CCAGCTACTTGGGTGGCTGAGGCAGGAGAATCGCCTGAAACCGGAAGGTG GAGATTGCAGTGAGCTGAGATGGAGCCACTGCACTCCAGCCTGGGCAAAA GGGCGAAACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGAAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0008 a0006c0008t0008	a0006c0008t0008g0056 a0006c0008t0008g0056	1	454	0.0022	-299	c.-16 others(11): Show c.-1687_-1389del	ART5	ENSG00000167311.14	transcript	ENST00000397068.8	protein_coding		1259		chr11	TogoVar
BID_chr22_17729138_17779469	17747937	GCGGTGGC others(292): Show GCGGTGGCTCACGCCTGCAATCCCAGCACTATGGGAGGCCGAGGCGGGCA GATCGCGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTTTACTAAAATATAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTG TAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATGGCATGAACTTGGG AGGCGGAGCTGGCAGTGAGCGGAGATCACATCACTGCACTCCAGCCTGGG CGACAGAGCAAAACTGCGTCTCAAAAAAATAATAATAATAAGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG03225.hp2 others(1): Show HG02280.hp2 HG02886.hp1 HG03225.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0146 others(1): Show a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0146 a0002c0002t0001g0336	4	362	0.0111	-299	c.12+ others(15): Show c.12+1869_12+2167del	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	2/5			chr22	TogoVar
BRD4_chr19_15230519_15337539	15301521	ACACTGCA others(292): Show ACACTGCACTCCAGCCTGGGCGACAGAGCAAGACTACGTCTCAAAACAAA AAAAAAAAAGGCTGGGTGCAGTGACTCACGCCTGTAATCCCAGCACTTTG GGAAGCCGAGGTGGACAGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTGGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATGGTGTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCGAAGACTGTGC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	208	0.0048	-299	c.-34 others(19): Show c.-34-28687_-34-28389del	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
CANT1_chr17_78986716_79014764	79004728	GGGGAGTT others(292): Show GGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAGC TAGGGAGAGGGGGGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGGAG GGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAGGGAGAGGAGTT AAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGGG AGTTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGATGGGAGTTA GGGAGAGGGGGGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18943.hp2 NA18950.hp2 others(2): Show HG00408.hp1 NA18943.hp2 NA18950.hp2 NA18951.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	5	394	0.0127	-299	c.-14 others(19): Show c.-147+4637_-147+4935del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CDH4_chr20_61247261_61945617	61945318	CGACGACG others(292): Show CGACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTCAC TGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCTTTCTGAC TGATGATAAGGAACATTGCGACTGTCTGCACCGTGGCTGCCCCTTCTCAC CAACGCTGAGGAGCACTGCAACCATCTGCACCGTGGCCGCCCCTTCTCAC CGATGATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0027 a0002c0004t0027	a0002c0004t0027g0098 a0002c0004t0027g0098	1	106	0.0094	-299	c.83 others(11): Show c.8376_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4702		chr20	TogoVar
CDK11A_chr1_1697379_1729357	1726194	GAGTGCTG others(292): Show GAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTAGCTATTTTTATTTT TTCTGATAGGGAGACTCGCTCTGGCCCAGGCTGGAGGGCAGTGGCGGGAT CTCCGCTCATTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCCT CCACTCCATTCTCCCATCTTAGGCTCCAGAGTAGCTGGGCCACCATGCCC GGCTAATTTTTTGTATTTTTAGTTGAGACCGGGTTTCACTGTGTTAGCCA GGATGGTCTTGATCTCGTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	372	0.0027	-299	c.-22 others(11): Show c.-2249_-1951del	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding		1838		chr1	TogoVar
CFAP251_chr12_121913592_122008919	121977638	CGACAGAG others(292): Show CGACAGAGCGAAACTCTCCTCAAAAAATAAAAAACTGGCCGGGTGTGGTG GCTCAGACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCAC GAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTC TATGAAAAATACAAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGT AGTCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp2 HG03225.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0065 a0008c0010t0001g0066 a0008c0010t0001g0065 a0008c0010t0001g0066	2	354	0.0057	-299	c.300 others(19): Show c.3006+1964_3006+2262del	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLIC4_chr1_24740447_24849321	24799913	CGGGGGGG others(292): Show CGGGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	344	0.0029	-299	c.182 others(17): Show c.182+2073_182+2371del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP2_chr7_74284407_74410935	74369856	AAAAAAAA others(292): Show AAAAAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGCTC CAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATACAA AAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCGGAAG GCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGAGCCA GGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTGCCTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(61): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03486.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18952.hp2 NA18955.hp1 NA18964.hp1 NA18979.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19004.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19082.hp1 NA19085.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0006 a0003c0011 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0002t0018 a0001c0010t0003 a0002c0003t0002 a0002c0006t0002 a0003c0011t0002 a0005c0012t0001	a0001c0001t0001g0092 a0001c0001t0001g0193 a0001c0001t0001g0219 others(61): Show a0001c0001t0001g0092 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0274 a0001c0001t0002g0184 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0003g0063 a0001c0001t0005g0018 a0001c0002t0001g0081 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0185 a0001c0002t0001g0190 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0237 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0266 a0001c0002t0001g0277 a0001c0002t0002g0098 a0001c0002t0002g0103 a0001c0002t0002g0232 a0001c0002t0002g0241 a0001c0002t0002g0252 a0001c0002t0002g0257 a0001c0002t0002g0273 a0001c0002t0004g0071 a0001c0002t0005g0079 a0001c0002t0005g0166 a0001c0002t0016g0230 a0001c0002t0018g0256 a0001c0010t0003g0061 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0160 a0002c0006t0002g0089 a0003c0011t0002g0242 a0005c0012t0001g0265	64	278	0.2302	-299	c.138 others(19): Show c.1381-3055_1381-2757del	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLSTN1_chr1_9723926_9828965	9810272	ACGAGACC others(292): Show ACGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAC AAAAATTAGTCAGGTGTGGGAGTGTACACCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATTGCTTGAAGCCGGGAGGCAGAGGTTGCAGAGA GCCAAGATCATGCCACTGCACTCCAGGCTGGGCAACAGAATGAGACTCTG TCTCAAAAATAAATAAATAAAGACTGGGGACACTAGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCACAGCAGATAGATCACCTGTAGTCAGGAGTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0117 a0001c0003t0004g0117	1	270	0.0037	-299	c.91+ others(17): Show c.91+13072_91+13370del	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	1/18			chr1	TogoVar
CNBD2_chr20_35963590_36035700	35975040	CGCCCAGG others(292): Show CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTCTTTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01167.hp1 others(17): Show HG00741.hp1 HG00741.hp2 HG01167.hp1 HG01361.hp2 HG01891.hp2 HG01981.hp2 HG02451.hp1 HG02630.hp1 HG02717.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18941.hp1 NA18952.hp1 NA18966.hp1 NA18994.hp2 NA19005.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0001c0001t0001 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(17): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0009t0001g0142 a0002c0002t0001g0141 a0002c0002t0001g0152 a0002c0002t0001g0245	20	268	0.0746	-299	c.190 others(15): Show c.190-701_190-403del	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNBD2_chr20_35963590_36035700	35975297	GGCCTCTT others(292): Show GGCCTCTTTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC ACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0002 a0012c0015t0002	a0012c0015t0002g0108 a0012c0015t0002g0108	1	268	0.0037	-299	c.190 others(15): Show c.190-647_190-349del	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
CORO2B_chr15_68573993_68732806	68691327	CAAAAAAA others(292): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG01978.hp2 others(2): Show HG00642.hp2 HG01891.hp1 HG01978.hp2 HG02559.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006	a0001c0001t0008g0001 a0001c0002t0001g0189 a0001c0002t0002g0038 others(2): Show a0001c0001t0008g0001 a0001c0002t0001g0189 a0001c0002t0002g0038 a0001c0002t0002g0168 a0001c0002t0006g0223	5	256	0.0195	-299	c.217 others(17): Show c.217-3796_217-3498del	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CPNE7_chr16_89570758_89602246	89587792	ACCCACAG others(292): Show ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp2 HG02559.hp1 others(5): Show HG01070.hp1 HG01884.hp2 HG02559.hp1 HG02683.hp1 HG03017.hp1 HG03704.hp2 NA18971.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0027	a0001c0001t0001 a0001c0002t0002 a0001c0007t0006 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0007t0006 a0001c0009t0001 a0001c0027t0005	a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0222 a0001c0002t0002g0255 a0001c0007t0006g0259 a0001c0009t0001g0061 a0001c0027t0005g0156	8	348	0.0230	-299	c.927 others(15): Show c.927+694_928-581del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	3795990	TATATATC others(292): Show TATATATCTATCATGTATATAGATATATATCATGTATAGATATAGATATA TATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATC TATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATC ATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAG ATATAGATATATATCTATCATAGATATAGATATATATCTATCATAGATAT AGATATATATCTATCATGTATAGATATAGATATATATCTATCATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0077 a0001c0025t0003g0077	1	126	0.0079	-299	c.819 others(19): Show c.819-42247_819-41949del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
EPHA4_chr2_221413027_221577304	221523564	AGCATGAG others(292): Show AGCATGAGCCACCGTGCCTGGCCAGAATATTTTTTAGTAACTTTTTTTGA GACAGAGCCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCCCG GCTCACTGCAACCTCCATCTCTGAGGTTCCAGAAATTCTCCTGCTTCAGC CTTCTGGGTAGCTGAGATTACAGACGTGTGCCACCATGCCTGGCTAATAT TTTTTGCATTTTTAAGAGAGACAAGGTTTCATCATGTTGGTCAGGCTGGT CTCAAACTCCTGAACTCAAATGACAGCCTCCCAAAGTGCTGGGATTACAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01109.hp2 others(23): Show HG00639.hp1 HG00738.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG01981.hp1 HG02004.hp2 HG02273.hp2 HG03017.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18956.hp2 NA18973.hp2 NA18977.hp2 NA18986.hp2 NA18993.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19012.hp1 NA19063.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0047 a0001c0005t0001 a0001c0005t0014	a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 others(23): Show a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0294 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0003g0289 a0001c0001t0031g0046 a0001c0002t0001g0039 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0163 a0001c0002t0002g0043 a0001c0002t0002g0053 a0001c0002t0047g0229 a0001c0005t0001g0029 a0001c0005t0001g0034 a0001c0005t0014g0040	26	294	0.0884	-299	c.824 others(19): Show c.824-22691_824-22393del	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
ERICH1_chr8_659200_736224	696298	TCTCCTTC others(292): Show TCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTCCACTCCT CTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCACCCTCCACTCTTCTC CTTCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCACTCGCTCCTCTCA CCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCAC CCTCTCTCCCTCTCCTTCCTCCCCATCAGCCTGTGCGCGCTCCTCACACC CTCCCTCTCCTTCCTCCCCATCAGCCTGTACTCGCTCCTCTTACCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02647.hp2 HG01981.hp2 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0041 a0003c0004t0002g0291 a0001c0001t0001g0041 a0003c0004t0002g0291	2	378	0.0053	-299	c.170 others(17): Show c.170-3985_170-3687del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FGF12_chr3_192134390_192732541	192641105	TTTTTTTT others(292): Show TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCT GCCACTACGCCCGCCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG02280.hp1 others(7): Show HG01074.hp1 HG01109.hp2 HG02280.hp1 HG02615.hp1 HG03130.hp1 HG03225.hp1 HG03492.hp1 NA18906.hp2 NA19060.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0026 a0001c0001t0040	a0001c0001t0001g0037 a0001c0001t0004g0051 a0001c0001t0005g0022 others(7): Show a0001c0001t0001g0037 a0001c0001t0004g0051 a0001c0001t0005g0022 a0001c0001t0006g0069 a0001c0001t0010g0014 a0001c0001t0010g0032 a0001c0001t0012g0023 a0001c0001t0018g0024 a0001c0001t0026g0072 a0001c0001t0040g0018	10	90	0.1111	-299	c.13+ others(17): Show c.13+85777_13+86075del	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805526	CCCCCCTC others(292): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0044 a0003c0007t0001g0044	1	314	0.0032	-299	c.13 others(11): Show c.1361_*1659del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1240		chr2	TogoVar
GARRE1_chr19_34249554_34360566	34252577	GCCTTCCA others(292): Show GCCTTCCAAGTAGCTGGGATTATAGGCCTCCACCACCACGCCTGGCTAAC TTTTTGTATTTTTAGTACAGATGGGATTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGTTG GGATTACAGGCGTGAACCACTGCACCCGGCCTCTTTTTTTTTTTTTTTTG AGATAGATTCTCGCTTCATCGCCAAGGCTGGAATACAGTGGCGTAATCTC AGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTTGTTCTCCTGCTTCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA18942.hp2 NA18982.hp1 others(2): Show HG04199.hp2 NA18942.hp2 NA18982.hp1 NA19005.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0198 a0001c0002t0002g0013 a0001c0002t0002g0040 others(2): Show a0001c0001t0001g0198 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0053	5	326	0.0153	-299	c.-28 others(11): Show c.-2832_-2534del	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding		1976		chr19	TogoVar
GTPBP6_chrX_299759_323796	315575	CACACACA others(292): Show CACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAG ACAGACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGA CACAAACACATACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACACACACAGACACATACACAGAGACACACACAAACACAGTA AACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACA CACACACAGTAAACACATCCCGGCAGGGACACAAACACATACACATGCAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0042 a0009c0012t0002g0042	1	155	0.0065	-299	c.488 others(15): Show c.488-575_488-277del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HEATR4_chr14_73473484_73563947	73487004	ACGCCTGT others(292): Show ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCATGAGG TCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTGTACT AAAAATAATAATAATAATAATTAAAAAAAGAATGTCAATTTCCTTTGATT TTTTTAAAAGGGAATTCTATTGATTCAAAACAAAAAAAAAAAGAAGAGAA AGGTAAGCAATGCTTAAAAATCAAGAAAAATGAGATGAATTAGGGAAAGT AAAGTTTATTGTTTAAAAAATACTATATTTTGGCTGGGCACAGTGGCTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(44): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01358.hp2 HG01978.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02523.hp1 HG02622.hp1 HG03490.hp1 NA18939.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19083.hp2 NA19086.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0004c0012t0004	a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0063 others(44): Show a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0205 a0001c0001t0002g0261 a0001c0001t0002g0303 a0001c0001t0002g0317 a0001c0001t0003g0197 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0243 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0360 a0001c0002t0001g0093 a0001c0002t0002g0208 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0316 a0001c0002t0002g0318 a0001c0002t0002g0326 a0001c0002t0002g0348 a0004c0012t0004g0162	47	368	0.1277	-299	c.284 others(19): Show c.2844+5763_2844+6061del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	17/17			chr14	TogoVar
INTS11_chr1_1306600_1329660	1316834	GAACTGCT others(292): Show GAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTCAAAAAAAAAT AAATAAATAAAATTGAGAGACAGGGTGGGGCTGTCACCCAGGCTGCAGTG GCGCAATCATGGCTCACTCAAACTCCTGGGCTCAAGCGTCCTCCCGCCTC CACCTCCGCCTCCCAAATAGCTGGGACTATAGGCACGCACCCACCACGCC AGGCTAATTTAAAAACAAAATTTTGGCCAGGCGCAGTGGCTCACTCTTGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03704.hp1 HG01081.hp2 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0130 a0001c0003t0001g0131	2	354	0.0057	-299	c.430 others(17): Show c.430-1515_430-1217del	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	4/16			chr1	TogoVar
KIAA1671_chr22_24947716_25202448	25000193	TTTTTTTT others(292): Show TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02886.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02886.hp1 HG03130.hp1 HG03195.hp1 HG06807.hp2 NA19043.hp1	a0001 a0018 a0029 a0001 a0018 a0029	a0001c0005 a0001c0019 a0001c0073 others(3): Show a0001c0005 a0001c0019 a0001c0073 a0001c0122 a0018c0042 a0029c0075	a0001c0005t0004 a0001c0005t0012 a0001c0019t0002 others(4): Show a0001c0005t0004 a0001c0005t0012 a0001c0019t0002 a0001c0073t0022 a0001c0122t0010 a0018c0042t0002 a0029c0075t0004	a0001c0005t0004g0014 a0001c0005t0012g0150 a0001c0019t0002g0233 others(4): Show a0001c0005t0004g0014 a0001c0005t0012g0150 a0001c0019t0002g0233 a0001c0073t0022g0226 a0001c0122t0010g0027 a0018c0042t0002g0147 a0029c0075t0004g0022	7	254	0.0276	-299	c.-20 others(21): Show c.-207-25421_-207-25123del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
LCN15_chr9_136754634_136769518	136769219	CCCCCCCG others(292): Show CCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCC TCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCC CGCCACCCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCCATGC ACTGCCCCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCAC CCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCC CCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-299	c.-50 others(11): Show c.-5030_-4732del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4702		chr9	TogoVar
LRRC4C_chr11_40109209_41464652	40554721	AAATGGGA others(292): Show AAATGGGATTGCATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCT CGCTCTGTCGCCCAGGTGTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGACGCCC GCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp2 NA19030.hp1 others(1): Show HG03540.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0040	4	48	0.0833	-299	c.-27 others(21): Show c.-270+93122_-270+93420del	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	3/6			chr11	TogoVar
LSS_chr21_46183446_46233774	46183529	CTGCGGGG others(292): Show CTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACC AGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCCTTGTGGGGGAG ACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAG GAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCTTGCGG GGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGG GGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02559.hp1 others(8): Show HG01257.hp2 HG01258.hp1 HG02559.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03540.hp1 NA19030.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0009 a0008c0013 a0009c0014 a0001c0009 a0008c0013 a0009c0014	a0001c0009t0004 a0008c0013t0016 a0009c0014t0004 a0001c0009t0004 a0008c0013t0016 a0009c0014t0004	a0001c0009t0004g0022 a0001c0009t0004g0023 a0001c0009t0004g0024 others(4): Show a0001c0009t0004g0022 a0001c0009t0004g0023 a0001c0009t0004g0024 a0001c0009t0004g0126 a0008c0013t0016g0043 a0008c0013t0016g0044 a0009c0014t0004g0021	11	358	0.0307	-299	c.72 others(11): Show c.7276_*7574del	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		4916		chr21	TogoVar
MINDY4_chr7_30766417_30897387	30857447	TCCATATC others(292): Show TCCATATCCACCTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(176): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(20): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0024 a0026 a0028 a0029 a0031	a0002c0003 a0002c0015 a0002c0022 others(35): Show a0002c0003 a0002c0015 a0002c0022 a0002c0029 a0002c0034 a0002c0037 a0003c0002 a0003c0016 a0004c0010 a0004c0011 a0004c0013 a0004c0017 a0004c0018 a0004c0042 a0005c0004 a0006c0005 a0006c0012 a0007c0007 a0007c0019 a0008c0008 a0008c0050 a0010c0014 a0011c0020 a0011c0025 a0012c0023 a0014c0052 a0015c0051 a0016c0026 a0017c0027 a0018c0045 a0019c0024 a0020c0031 a0021c0039 a0024c0043 a0026c0036 a0028c0046 a0029c0047 a0031c0048	a0002c0003t0001 a0002c0003t0003 a0002c0015t0001 others(40): Show a0002c0003t0001 a0002c0003t0003 a0002c0015t0001 a0002c0022t0002 a0002c0029t0001 a0002c0034t0001 a0002c0037t0001 a0003c0002t0001 a0003c0002t0002 a0003c0016t0001 a0004c0010t0001 a0004c0010t0003 a0004c0010t0004 a0004c0011t0001 a0004c0013t0001 a0004c0017t0001 a0004c0018t0001 a0004c0042t0002 a0005c0004t0001 a0006c0005t0001 a0006c0012t0001 a0007c0007t0001 a0007c0019t0001 a0008c0008t0001 a0008c0008t0003 a0008c0050t0001 a0010c0014t0001 a0011c0020t0001 a0011c0025t0001 a0012c0023t0001 a0014c0052t0001 a0015c0051t0001 a0016c0026t0003 a0017c0027t0001 a0018c0045t0001 a0019c0024t0001 a0020c0031t0001 a0021c0039t0001 a0024c0043t0002 a0026c0036t0001 a0028c0046t0001 a0029c0047t0001 a0031c0048t0003	a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 others(171): Show a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0056 a0002c0003t0001g0058 a0002c0003t0001g0067 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0003g0131 a0002c0015t0001g0083 a0002c0015t0001g0106 a0002c0015t0001g0118 a0002c0022t0002g0030 a0002c0022t0002g0292 a0002c0029t0001g0191 a0002c0034t0001g0076 a0002c0037t0001g0017 a0003c0002t0001g0003 a0003c0002t0001g0004 a0003c0002t0001g0142 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0260 a0003c0002t0002g0152 a0003c0016t0001g0002 a0003c0016t0001g0159 a0003c0016t0001g0171 a0004c0010t0001g0027 a0004c0010t0001g0048 a0004c0010t0003g0021 a0004c0010t0004g0026 a0004c0011t0001g0125 a0004c0011t0001g0127 a0004c0011t0001g0128 a0004c0011t0001g0129 a0004c0011t0001g0133 a0004c0011t0001g0134 a0004c0011t0001g0145 a0004c0011t0001g0146 a0004c0013t0001g0043 a0004c0013t0001g0044 a0004c0013t0001g0045 a0004c0013t0001g0046 a0004c0013t0001g0126 a0004c0013t0001g0262 a0004c0017t0001g0022 a0004c0017t0001g0047 a0004c0018t0001g0038 a0004c0018t0001g0141 a0004c0018t0001g0144 a0004c0042t0002g0293 a0005c0004t0001g0023 a0005c0004t0001g0024 a0005c0004t0001g0025 a0006c0005t0001g0005 a0006c0005t0001g0051 a0006c0005t0001g0187 a0006c0005t0001g0189 a0006c0005t0001g0190 a0006c0005t0001g0193 a0006c0005t0001g0194 a0006c0005t0001g0195 a0006c0005t0001g0196 a0006c0005t0001g0197 a0006c0005t0001g0198 a0006c0005t0001g0202 a0006c0005t0001g0209 a0006c0005t0001g0212 a0006c0005t0001g0213 a0006c0005t0001g0216 a0006c0012t0001g0001 a0006c0012t0001g0185 a0006c0012t0001g0186 a0006c0012t0001g0192 a0006c0012t0001g0211 a0006c0012t0001g0215 a0007c0007t0001g0147 a0007c0007t0001g0223 a0007c0007t0001g0224 a0007c0007t0001g0225 a0007c0007t0001g0226 a0007c0007t0001g0227 a0007c0007t0001g0228 a0007c0007t0001g0229 a0007c0007t0001g0233 a0007c0007t0001g0234 a0007c0007t0001g0235 a0007c0007t0001g0236 a0007c0019t0001g0231 a0007c0019t0001g0232 a0008c0008t0001g0184 a0008c0008t0001g0218 a0008c0008t0001g0219 a0008c0008t0001g0220 a0008c0008t0001g0221 a0008c0008t0001g0222 a0008c0008t0001g0254 a0008c0008t0001g0255 a0008c0008t0001g0256 a0008c0008t0001g0257 a0008c0008t0001g0258 a0008c0008t0003g0259 a0008c0050t0001g0217 a0010c0014t0001g0011 a0011c0020t0001g0028 a0011c0020t0001g0029 a0011c0025t0001g0019 a0012c0023t0001g0164 a0012c0023t0001g0165 a0014c0052t0001g0282 a0015c0051t0001g0073 a0016c0026t0003g0033 a0017c0027t0001g0018 a0018c0045t0001g0263 a0019c0024t0001g0230 a0020c0031t0001g0050 a0021c0039t0001g0068 a0024c0043t0002g0012 a0026c0036t0001g0140 a0028c0046t0001g0054 a0029c0047t0001g0041 a0031c0048t0003g0066	179	300	0.5967	-299	c.167 others(19): Show c.1678-1793_1678-1495del	MINDY4	ENSG00000106125.14	transcript	ENST00000265299.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544343	GGTGAATG others(292): Show GGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAG TGGTGAGTGGGGACAGTGGTGAGTCGGGGGACAGTGGTGAATGGGCACGG TAGTGAGTGGGGGGACAGTAGTGAGTGGGGACAGTGGTGAGTGGGGGGGA CAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACAGTTGTTGAGT TGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTG GTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGCACTGTA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0141 a0001c0015t0008g0141	1	286	0.0035	-299	c.153 others(19): Show c.1539+1689_1540-1960del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOXD1_chr6_132291055_132406475	132386028	AGGAGGCG others(292): Show AGGAGGCGTAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCT GGGCGACAGGGCAAGACTGCGTCTCAAAAAAAAAAAAAGAAAAGGCCAGG CGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAAATCAAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCTTCGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG01243.hp2 others(52): Show HG00544.hp1 HG00621.hp2 HG01243.hp2 HG01346.hp2 HG01928.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp2 HG02129.hp1 HG02572.hp2 HG02886.hp1 HG03041.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18971.hp2 NA18974.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0002c0003t0001	a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0001g0081 others(52): Show a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0002g0246 a0001c0001t0003g0208 a0001c0001t0012g0069 a0001c0001t0014g0231 a0002c0003t0001g0003	55	318	0.1730	-299	c.265 others(19): Show c.265-11550_265-11252del	MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	1/11			chr6	TogoVar
MTRES1_chr6_107023199_107056586	107054770	TGGGTCAT others(292): Show TGGGTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATA GCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAACCCA TCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTA ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAG GTGGAGGTTGCAATGAGCCGAGACGGTGCCATTGCACTCCAGCCTGGGCG ACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGGGGGCTAGGTGCAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0204 a0001c0001t0001g0035 a0001c0001t0001g0204	2	406	0.0049	-299	c.35 others(11): Show c.3535_*3833del	MTRES1	ENSG00000130349.10	transcript	ENST00000311381.8	protein_coding		3185		chr6	TogoVar
MTRES1_chr6_107023199_107056586	107054777	TGCCTGTA others(292): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATAGCCTGAG GTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCTAC TAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAATCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGG TTGCAATGAGCCGAGACGGTGCCATTGCACTCCAGCCTGGGCGACAAGAG CAAGACTCCATCTCAAAAAAAAAAAAAGGGGGCTAGGTGCAGAGGCTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	406	0.0025	-299	c.35 others(11): Show c.3542_*3840del	MTRES1	ENSG00000130349.10	transcript	ENST00000311381.8	protein_coding		3192		chr6	TogoVar
NEU4_chr2_241804193_241822413	241806767	CCTCAGCC others(292): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	319	0.0031	-299	c.-25 others(11): Show c.-2510_-2212del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2425		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79417299	ATGGGAGA others(292): Show ATGGGAGATGGGCTGTGGTGGGAGATGGGAGATCGGCTGTGGTGGGAGAT GGGAGATGGGCTGGGCAGGAGATGGGCTGTGGTGGGAGATGGGAGATGGG CTGTGGTGGGAGATGGGCTGTGGTGGGAGATGGGAGATGGGCTGTGGTGG GAGATGGGAGATGGGCTGTGGTGGGAGATGGGAGATCGGCTGTGGTGGGA GATGGGAGATGGGCTGGGCAGGAGATGGGCTGTGGTGGGAGATGGGAGAT GGGCTGTGGTGGGAGATGGGCTGTGGTGGGAGATGGGAGATGGGCTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00741.hp1 others(17): Show HG00323.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG03239.hp1 HG06807.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0027 a0001c0053 others(3): Show a0001c0001 a0001c0027 a0001c0053 a0003c0007 a0003c0016 a0003c0032	a0001c0001t0001 a0001c0027t0008 a0001c0053t0003 others(8): Show a0001c0001t0001 a0001c0027t0008 a0001c0053t0003 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0007t0008 a0003c0007t0024 a0003c0016t0002 a0003c0016t0007 a0003c0032t0007	a0001c0001t0001g0242 a0001c0027t0008g0030 a0001c0053t0003g0180 others(17): Show a0001c0001t0001g0242 a0001c0027t0008g0030 a0001c0053t0003g0180 a0003c0007t0001g0206 a0003c0007t0002g0014 a0003c0007t0002g0021 a0003c0007t0002g0025 a0003c0007t0003g0179 a0003c0007t0008g0017 a0003c0007t0008g0019 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0008g0032 a0003c0007t0024g0146 a0003c0016t0002g0026 a0003c0016t0002g0027 a0003c0016t0002g0028 a0003c0016t0007g0018 a0003c0032t0007g0024	20	322	0.0621	-299	c.122 others(19): Show c.1226+5831_1226+6129del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NPHS1_chr19_35820372_35857504	35823812	ACCAACAT others(292): Show ACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCTAG GCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAGG AGAATCACTTGAAACAAGGAGGCAGAGGATGCAATAAGCCGAGATCGTGC CACTGTATTCGCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAAAAT AAAAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGACCACTTGAGGTCAGGAGTTCGAAACCAGCCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG02055.hp2 HG03225.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0017 a0015c0027t0017	a0015c0027t0017g0016 a0015c0027t0017g0017 a0015c0027t0017g0016 a0015c0027t0017g0017	2	384	0.0052	-299	c.24 others(11): Show c.2403_*2701del	NPHS1	ENSG00000161270.20	transcript	ENST00000378910.10	protein_coding		1559		chr19	TogoVar
PPP2R5C_chr14_101756709_101932977	101782283	CTCTCTCC others(292): Show CTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCT TCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCT CCCCTCTGGCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCA TTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCGCTCCC TCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCCCT CCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	138	0.0073	-299	c.94- others(15): Show c.94-3730_94-3432del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101782322	CCTCTCCC others(292): Show CCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCT TCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCCCTCTCTCTCCCCCC CTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCC CTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTC CCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCT CTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	138	0.0073	-299	c.94- others(15): Show c.94-3672_94-3374del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2147948	ATTGTCCA others(292): Show ATTGTCCACTGACCTCTCCATCTATCCATCTATTGTCCACTGACCTCTCC ATCTATCCATCCATCTATTGTCCACTGACCTCTCCATCTATCCATCCACT GTCCACTGACCTCTCCATCTATCCATCCATCTATTGTCTACTGACCTCTC CATCTATCCATCCATCTATTGTCCACTGACGTCTCCATCTATCCATCTGT CTGTTGTCCACTGACCTGTCCACCCATCTGTCTGTTGTCCACTGACCTCT CCATCTTTCCGTCTGTTGTCCACTGACCTCTCCGTCTATCCATCTATCTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	286	0.0035	-299	c.635 others(15): Show c.635-835_635-537del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162472493	TTTTTTGA others(292): Show TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC ACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTT GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03704.hp2 HG02897.hp2 HG03704.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0011 a0001c0004 a0005c0011	a0001c0004t0001 a0005c0011t0012 a0001c0004t0001 a0005c0011t0012	a0001c0004t0001g0001 a0005c0011t0012g0009 a0001c0004t0001g0001 a0005c0011t0012g0009	2	32	0.0625	-299	c.8-2 others(15): Show c.8-29319_8-29021del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PTPN9_chr15_75458251_75584315	75574973	AAGAAATA others(292): Show AAGAAATATCTTTTTTTTTTTTTTTTTTTGAGACAGAGGAGACGGAGTCT CGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCA CTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCC TCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02165.hp1 HG02683.hp2 others(23): Show HG01261.hp1 HG02165.hp1 HG02683.hp2 HG02698.hp2 HG03834.hp1 HG03927.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19064.hp1 NA19070.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0001t0024	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0145 others(23): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0145 a0001c0001t0003g0017 a0001c0001t0005g0040 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0018g0118 a0001c0001t0024g0034	26	326	0.0798	-299	c.63+ others(15): Show c.63+3442_63+3740del	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PXDN_chr2_1626887_1749515	1704175	AGGAGGGC others(292): Show AGGAGGGCAACTCCAGGTGAAGGTGGGGGACAACTCCAGGTGAAGGGAGG GCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGACAGCTCC AGGTGAAGCGGGGGACAGCTCCAGGTGAAGGAAGGACAACTCCAGGTGAA GCGGGGGACAACTCCAGGTGAAAGAGGGACAACTCCAGGTGAAGGGGGGG CAACTCCAGGTGAAGGGGGGGGCAACTCCAGGTGAAGGAGGGCAACTCCA GGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(84): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20805.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0016 a0001c0026 a0001c0030 a0001c0033 a0001c0040 a0001c0044 a0007c0043 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0004t0004 a0001c0005t0007 a0001c0006t0008 a0001c0008t0002 a0001c0010t0008 a0001c0013t0002 a0001c0016t0005 a0001c0026t0001 a0001c0030t0001 a0001c0033t0001 a0001c0040t0030 a0001c0044t0025 a0007c0043t0006 a0013c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0173 others(84): Show a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0002g0174 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0288 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0015g0037 a0001c0001t0015g0316 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0026 a0001c0002t0003g0051 a0001c0002t0003g0097 a0001c0002t0003g0112 a0001c0002t0003g0169 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0002t0003g0314 a0001c0002t0032g0289 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0008g0305 a0001c0003t0012g0255 a0001c0004t0004g0029 a0001c0004t0004g0164 a0001c0004t0004g0306 a0001c0004t0004g0311 a0001c0005t0007g0161 a0001c0006t0008g0315 a0001c0008t0002g0298 a0001c0010t0008g0309 a0001c0013t0002g0307 a0001c0016t0005g0001 a0001c0026t0001g0261 a0001c0030t0001g0308 a0001c0033t0001g0216 a0001c0040t0030g0088 a0001c0044t0025g0210 a0007c0043t0006g0062 a0013c0021t0002g0251	87	322	0.2702	-299	c.201 others(19): Show c.201-11340_201-11042del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RFTN1_chr3_16310845_16518699	16408564	ATCATATT others(292): Show ATCATATTAAAACTCAAGTAGACCCTACAGTTAGGCACAAAACCTCATAT GGTTCACTAGTTCGGCTGTTTTATTCTCTGTATCCCAACATCTAGTACTA TTCCTGGCCCAAAGCTGACAGCTGACAATAATTATTAACAAATTCCCTAA TTGGCTGATTGGACCTCAAATCACAATCACCTGTATGGGGTGGGGGAATT GTCGATTACTAGGGAACACTGGGTAAGAGAGAACAAGATAAGCATCAAGC AGTGAACTCAGCCCCAATTTGGGGCTAGGACATTCCTTCTGTAGTAAATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01358.hp1 others(2): Show HG01081.hp1 HG01109.hp2 HG01358.hp1 HG01516.hp2 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0002 a0003c0004t0001 a0001c0001t0001 a0001c0002t0002 a0003c0004t0001	a0001c0001t0001g0041 a0001c0002t0002g0016 a0001c0002t0002g0025 others(2): Show a0001c0001t0001g0041 a0001c0002t0002g0016 a0001c0002t0002g0025 a0003c0004t0001g0008 a0003c0004t0001g0032	5	268	0.0187	-299	c.441 others(15): Show c.441+512_441+810del	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFX7_chr15_56082280_56248879	56110387	CGCCCGGC others(292): Show CGCCCGGCCAGCCGCCCCGTCCGGGGGAGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCATCCGGGAGGCGAGGGGAGCCTCTGCCCTGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGG GAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG01109.hp1 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0049 a0001c0004t0050 a0001c0004t0049 a0001c0004t0050	a0001c0004t0049g0254 a0001c0004t0050g0253 a0001c0004t0049g0254 a0001c0004t0050g0253	2	360	0.0056	-299	c.402 others(17): Show c.402-7016_402-6718del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RIOX1_chr14_73485933_73498394	73487004	ACGCCTGT others(292): Show ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCATGAGG TCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTGTACT AAAAATAATAATAATAATAATTAAAAAAAGAATGTCAATTTCCTTTGATT TTTTTAAAAGGGAATTCTATTGATTCAAAACAAAAAAAAAAAGAAGAGAA AGGTAAGCAATGCTTAAAAATCAAGAAAAATGAGATGAATTAGGGAAAGT AAAGTTTATTGTTTAAAAAATACTATATTTTGGCTGGGCACAGTGGCTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp2 others(63): Show HG00408.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01358.hp2 HG01978.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02523.hp2 HG02622.hp2 HG03490.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2	a0003 a0009 a0003 a0009	a0003c0002 a0009c0011 a0003c0002 a0009c0011	a0003c0002t0001 a0003c0002t0004 a0003c0002t0012 others(1): Show a0003c0002t0001 a0003c0002t0004 a0003c0002t0012 a0009c0011t0011	a0003c0002t0001g0000 a0003c0002t0004g0000 a0003c0002t0012g0000 others(1): Show a0003c0002t0001g0000 a0003c0002t0004g0000 a0003c0002t0012g0000 a0009c0011t0011g0000	66	422	0.1564	-299	c.-40 others(11): Show c.-4013_-3715del	RIOX1	ENSG00000170468.8	transcript	ENST00000304061.8	protein_coding		3928		chr14	TogoVar
ROR2_chr9_91717601_91955228	91797297	GGGCTCTG others(292): Show GGGCTCTGTGGGTGGGGAATGACACCCTGGGATCTGTGGGTGGGGCTGAC ACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGATCTGTGGATAGGGC TGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTG GGGAATGACACACTGGGCTCTGTGGGCGAGGCTGACACCCTGGGCTAGTG GGTGGAGTTGACACCATGGGGTCTGTTAGTGGGGAATGACACCCTGGGCT CTGTGGGTGGGGCTGACACCCTGCATTCTGTGGGCGGGGCTGACACCCTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(149): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0015 a0016 a0017	a0001c0001 a0001c0005 a0001c0009 others(32): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0014 a0001c0022 a0001c0023 a0001c0034 a0002c0004 a0002c0006 a0002c0007 a0002c0013 a0002c0018 a0002c0020 a0002c0027 a0002c0029 a0002c0032 a0002c0039 a0003c0003 a0003c0015 a0003c0019 a0003c0033 a0003c0043 a0004c0002 a0004c0028 a0005c0008 a0006c0011 a0007c0012 a0008c0017 a0011c0037 a0012c0025 a0013c0026 a0015c0030 a0016c0024 a0017c0036	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0005t0003 a0001c0005t0013 a0001c0005t0016 a0001c0009t0003 a0001c0009t0009 a0001c0009t0010 a0001c0010t0004 a0001c0014t0006 a0001c0022t0001 a0001c0023t0001 a0001c0034t0003 a0002c0004t0003 a0002c0004t0011 a0002c0006t0004 a0002c0007t0001 a0002c0013t0003 a0002c0018t0001 a0002c0020t0001 a0002c0027t0003 a0002c0029t0003 a0002c0032t0004 a0002c0039t0003 a0003c0003t0002 a0003c0015t0002 a0003c0019t0002 a0003c0033t0001 a0003c0043t0002 a0004c0002t0002 a0004c0002t0008 a0004c0028t0002 a0005c0008t0005 a0006c0011t0001 a0007c0012t0003 a0008c0017t0001 a0011c0037t0002 a0012c0025t0008 a0013c0026t0004 a0015c0030t0002 a0016c0024t0002 a0017c0036t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 others(149): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0003g0179 a0001c0001t0006g0094 a0001c0001t0007g0087 a0001c0005t0003g0126 a0001c0005t0003g0134 a0001c0005t0003g0150 a0001c0005t0003g0151 a0001c0005t0003g0206 a0001c0005t0003g0210 a0001c0005t0003g0214 a0001c0005t0003g0215 a0001c0005t0013g0120 a0001c0005t0016g0226 a0001c0009t0003g0006 a0001c0009t0009g0221 a0001c0009t0010g0093 a0001c0010t0004g0039 a0001c0010t0004g0042 a0001c0010t0004g0167 a0001c0014t0006g0147 a0001c0014t0006g0149 a0001c0014t0006g0152 a0001c0022t0001g0004 a0001c0023t0001g0175 a0001c0034t0003g0084 a0002c0004t0003g0062 a0002c0004t0003g0065 a0002c0004t0003g0076 a0002c0004t0003g0088 a0002c0004t0003g0117 a0002c0004t0003g0123 a0002c0004t0003g0128 a0002c0004t0003g0129 a0002c0004t0003g0133 a0002c0004t0003g0188 a0002c0004t0003g0189 a0002c0004t0003g0199 a0002c0004t0011g0001 a0002c0006t0004g0022 a0002c0006t0004g0024 a0002c0006t0004g0025 a0002c0006t0004g0050 a0002c0006t0004g0070 a0002c0006t0004g0077 a0002c0006t0004g0130 a0002c0007t0001g0089 a0002c0007t0001g0090 a0002c0007t0001g0091 a0002c0007t0001g0196 a0002c0013t0003g0165 a0002c0018t0001g0192 a0002c0018t0001g0193 a0002c0020t0001g0005 a0002c0027t0003g0168 a0002c0029t0003g0100 a0002c0032t0004g0023 a0002c0039t0003g0224 a0003c0003t0002g0014 a0003c0003t0002g0017 a0003c0003t0002g0020 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0045 a0003c0003t0002g0053 a0003c0003t0002g0063 a0003c0003t0002g0069 a0003c0003t0002g0082 a0003c0003t0002g0101 a0003c0003t0002g0108 a0003c0003t0002g0111 a0003c0003t0002g0115 a0003c0003t0002g0180 a0003c0003t0002g0198 a0003c0003t0002g0200 a0003c0015t0002g0010 a0003c0015t0002g0213 a0003c0019t0002g0003 a0003c0033t0001g0056 a0003c0043t0002g0011 a0004c0002t0002g0015 a0004c0002t0002g0032 a0004c0002t0002g0033 a0004c0002t0002g0034 a0004c0002t0002g0035 a0004c0002t0002g0036 a0004c0002t0002g0046 a0004c0002t0002g0068 a0004c0002t0002g0081 a0004c0002t0002g0083 a0004c0002t0002g0092 a0004c0002t0002g0095 a0004c0002t0002g0097 a0004c0002t0002g0137 a0004c0002t0002g0154 a0004c0002t0002g0156 a0004c0002t0002g0185 a0004c0002t0002g0201 a0004c0002t0002g0202 a0004c0002t0008g0218 a0004c0028t0002g0186 a0005c0008t0005g0103 a0005c0008t0005g0104 a0006c0011t0001g0211 a0007c0012t0003g0135 a0008c0017t0001g0059 a0008c0017t0001g0067 a0011c0037t0002g0016 a0012c0025t0008g0153 a0013c0026t0004g0190 a0015c0030t0002g0043 a0016c0024t0002g0219 a0017c0036t0001g0061	152	226	0.6726	-299	c.98- others(17): Show c.98-21778_98-21480del	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91797445	TGGGGAAT others(292): Show TGGGGAATGACACACTGGGCTCTGTGGGCGAGGCTGACACCCTGGGCTAG TGGGTGGAGTTGACACCATGGGGTCTGTTAGTGGGGAATGACACCCTGGG CTCTGTGGGTGGGGCTGACACCCTGCATTCTGTGGGCGGGGCTGACACCC TAGGCTCTGTGGGTGGGGAATGACACCCTGGGATCTGTGGGTGGGGCTGA CACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGATCTGTGGATAGGG CTGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02886.hp2 others(4): Show HG02109.hp2 HG02615.hp1 HG02886.hp2 HG03130.hp1 HG03225.hp2 NA18522.hp2 NA18906.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0041 a0004c0040 a0005c0008 a0002c0041 a0004c0040 a0005c0008	a0002c0041t0001 a0004c0040t0002 a0005c0008t0005 a0002c0041t0001 a0004c0040t0002 a0005c0008t0005	a0002c0041t0001g0142 a0004c0040t0002g0141 a0005c0008t0005g0139 others(4): Show a0002c0041t0001g0142 a0004c0040t0002g0141 a0005c0008t0005g0139 a0005c0008t0005g0143 a0005c0008t0005g0144 a0005c0008t0005g0145 a0005c0008t0005g0184	7	226	0.0310	-299	c.98- others(17): Show c.98-21926_98-21628del	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar

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