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
CCDC77_chr12_396644_447642	421749	AAATACAC others(289): Show AAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCAT GTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATG TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0411 a0005c0005t0005g0411	1	432	0.0023	-296	c.413 others(17): Show c.413+3116_413+3411del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDK12_chr17_39456486_39539544	39498912	TTTCTTTC others(289): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02132.hp1 HG03017.hp2 others(4): Show HG02129.hp2 HG02132.hp1 HG03017.hp2 NA18975.hp2 NA19007.hp1 NA19009.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0032 a0001c0001t0040	a0001c0001t0001g0243 a0001c0001t0010g0091 a0001c0001t0012g0095 others(4): Show a0001c0001t0001g0243 a0001c0001t0010g0091 a0001c0001t0012g0095 a0001c0001t0012g0115 a0001c0001t0013g0112 a0001c0001t0032g0113 a0001c0001t0040g0114	7	260	0.0269	-296	c.242 others(19): Show c.2420-2335_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39498915	CTTTCTTT others(289): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02055.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0118 a0002c0003t0016g0119 a0002c0003t0016g0118 a0002c0003t0016g0119	2	260	0.0077	-296	c.242 others(19): Show c.2420-2331_2420-2036del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CLIC4_chr1_24740447_24849321	24799915	GGGGGGGG others(289): Show GGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGC CCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(59): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00738.hp1 HG01074.hp2 HG01243.hp2 HG01261.hp2 HG01516.hp1 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02155.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 NA18941.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18969.hp2 NA18982.hp1 NA18990.hp1 NA18992.hp1 NA19006.hp2 NA19010.hp2 NA19054.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(59): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0146 a0001c0001t0001g0218 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0336 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0007g0329 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0007g0338 a0001c0001t0009g0265 a0001c0001t0017g0312	62	344	0.1802	-296	c.182 others(17): Show c.182+2074_182+2369del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP2_chr7_74284407_74410935	74369859	AAAAAAAA others(289): Show AAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGCTCCAA ACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAA TTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCGGAAGGCT GAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGAGCCAGGC TCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTGCCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01070.hp2 others(7): Show HG00099.hp2 HG00673.hp1 HG01070.hp2 HG02074.hp1 HG03490.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG06807.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0004t0002 a0001c0009t0001	a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0003g0062 others(7): Show a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0003g0062 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0002g0140 a0001c0002t0003g0065 a0001c0002t0015g0275 a0001c0004t0002g0128 a0001c0009t0001g0082	10	278	0.0360	-296	c.138 others(19): Show c.1381-3053_1381-2758del	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CSMD1_chr8_2930361_4999914	3795684	TGTATAGA others(289): Show TGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTATCA TGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCATGTA CAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTATCA TGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATATCT ATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCATGTA CAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG02129.hp2 others(6): Show HG00438.hp2 HG02056.hp1 HG02129.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG03195.hp2 HG06807.hp2 NA19240.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0026	a0001c0002 a0001c0004 a0001c0007 others(6): Show a0001c0002 a0001c0004 a0001c0007 a0001c0045 a0001c0068 a0001c0081 a0002c0084 a0013c0027 a0026c0082	a0001c0002t0002 a0001c0004t0063 a0001c0007t0032 others(6): Show a0001c0002t0002 a0001c0004t0063 a0001c0007t0032 a0001c0045t0012 a0001c0068t0015 a0001c0081t0037 a0002c0084t0018 a0013c0027t0003 a0026c0082t0052	a0001c0002t0002g0083 a0001c0004t0063g0095 a0001c0007t0032g0033 others(6): Show a0001c0002t0002g0083 a0001c0004t0063g0095 a0001c0007t0032g0033 a0001c0045t0012g0010 a0001c0068t0015g0049 a0001c0081t0037g0030 a0002c0084t0018g0087 a0013c0027t0003g0099 a0026c0082t0052g0097	9	126	0.0714	-296	c.819 others(19): Show c.819-41938_819-41643del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015127	ACGATGCC others(289): Show ACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGA CGGTGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	-296	c.73+ others(19): Show c.73+107164_73+107459del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1406159	TGTCCTCC others(289): Show TGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCC AGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAG TCGTGTATTGAGTGCTACTGAGCGCACCACAGTGCTTACTGAGCGCCACC TCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCT TGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-296	c.107 others(19): Show c.107-95183_107-94888del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565391	GTGACTCT others(289): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0172 a0001c0001t0001g0220 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0172 a0001c0001t0001g0220 a0001c0001t0001g0221	5	340	0.0147	-296	c.641 others(15): Show c.641-533_641-238del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565572	TCTGTCTG others(289): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	340	0.0029	-296	c.641 others(15): Show c.641-714_641-419del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566303	GTGACTGT others(289): Show GTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG04204.hp1 HG01109.hp1 HG01346.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0001g0198 a0001c0001t0002g0026 a0001c0001t0001g0140 a0001c0001t0001g0198 a0001c0001t0002g0026	3	340	0.0088	-296	c.641 others(17): Show c.641-1445_641-1150del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566604	TCTGTCTG others(289): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	340	0.0029	-296	c.641 others(17): Show c.641-1746_641-1451del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567166	ACTCTGTC others(289): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03831.hp1 HG02257.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0181 a0001c0001t0001g0067 a0001c0001t0001g0181	2	340	0.0059	-296	c.641 others(17): Show c.641-2308_641-2013del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567490	ACTGTCTG others(289): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGG GGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	340	0.0029	-296	c.641 others(17): Show c.641-2632_641-2337del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EXOC3L4_chr14_103089725_103115559	103109320	TCTCCCTC others(289): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC TCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0285 a0002c0006t0001g0285	1	404	0.0025	-296	c.197 others(17): Show c.1977-702_1977-407del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
F13A1_chr6_6139084_6325662	6261580	GCCCTCCA others(289): Show GCCCTCCAGGTGATTCTGATGTGTTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG00438.hp2 HG00733.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0001 a0001c0006t0001 a0002c0002t0001	a0001c0006t0001g0203 a0002c0002t0001g0221 a0001c0006t0001g0203 a0002c0002t0001g0221	2	292	0.0069	-296	c.571 others(17): Show c.571+4682_571+4977del	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FSD1_chr19_4299598_4328836	4300153	TGGGAGGC others(289): Show TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCA GTGACCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGGC TCTGTCTCAAACAAAACAAAACAAGGCCGGGTGCAGTGGCTCACGCCTAT AATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACGAGGTCAGGAGA TCAAGACCATCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAATTAGCTGGGTGTGGTGGCATGTACCCGTAGTCCCAGCTACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	412	0.0024	-296	c.-45 others(11): Show c.-4593_-4298del	FSD1	ENSG00000105255.11	transcript	ENST00000221856.11	protein_coding		4444		chr19	TogoVar
GALNT9_chr12_132191372_132334589	132220894	TAAAAATA others(289): Show TAAAAATACAAAAATTAGCTGGGTGTGGTGGCTCACATCTGTAATCCCAG GTACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGTGGAGG TTGCAGTGAGCTGAGTTCACACCATTGCACTCCAGCCTGGTGAGAGTGAG ATTGTGTCAAAAAAAAAAAAAAAAAAAAAGGTCTGGGCGCGATGGCTCTT GCCTGTAATCCCAGCACTTTCGGAGGCCAAGGCAGGCAGATCATGAGGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTGTCTCTACC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	183	0.0055	-296	c.107 others(21): Show c.1078-17500_1078-17205del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346170	GGACCCGG others(289): Show GGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGT GGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGA GGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAG ACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGG CTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGAC ATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	288	0.0035	-296	c.466 others(17): Show c.466-1507_466-1212del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346254	GAGAGCAG others(289): Show GAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCT CTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCC AGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGA GCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCT GTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGG GAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03927.hp2 HG00280.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0011 a0001c0001t0001g0095	2	288	0.0069	-296	c.466 others(17): Show c.466-1591_466-1296del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346266	GGGAGGAC others(289): Show GGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGA GCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCT GTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGA AGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGC AGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	288	0.0035	-296	c.466 others(17): Show c.466-1603_466-1308del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GTPBP6_chrX_299759_323796	321932	TGTGGTGG others(289): Show TGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGA GGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGA CCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGC CTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGT GGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGT AAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAGAAAAGCCGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	155	0.0065	-296	c.-34 others(11): Show c.-3441_-3146del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3137		chrX	TogoVar
HACL1_chr3_15555699_15606569	15592568	ATGTACGC others(289): Show ATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGT ATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGT GCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCAC ATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGT ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp2 HG02257.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	428	0.0047	-296	c.228 others(16): Show c.228-1184_228-889del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HDAC4_chr2_239043168_239406020	239079895	TATGCACA others(289): Show TATGCACACACACGTATACTGCATGCACACAGACATGCATCCACACCCAC ACAGATGTGTGTAACACACATAGGCATGGACACACACCTGCAGACATGCA CATGGCTGTAGACACCTGCACAAGCACTGAGAGACATGCACACAGATGAA CACCCACCCACACAGACACACACACAGATGAACGAACACCCACCCACACA GACACACACACACAGATGAACACCGACCCACACAAACACACACACGCACG TGGACACACACATATGCAGACGTGCACTCACATCCATACACAGACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02717.hp2 others(2): Show HG02145.hp2 HG02280.hp1 HG02717.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0001t0017 a0001c0003t0017 others(1): Show a0001c0001t0006 a0001c0001t0017 a0001c0003t0017 a0001c0004t0004	a0001c0001t0006g0227 a0001c0001t0017g0027 a0001c0003t0017g0001 others(2): Show a0001c0001t0006g0227 a0001c0001t0017g0027 a0001c0003t0017g0001 a0001c0004t0004g0009 a0001c0004t0004g0013	5	242	0.0207	-296	c.275 others(18): Show c.2750+904_2750+1199del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
KIAA1671_chr22_24947716_25202448	25000196	TTTTTTTT others(289): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00609.hp1 others(46): Show HG00099.hp1 HG00438.hp2 HG00609.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02735.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03710.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18981.hp1 NA18995.hp2 NA19002.hp2 NA19056.hp1 NA19063.hp2 NA19068.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0031 a0032	a0001c0001 a0001c0002 a0001c0004 others(26): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0017 a0001c0020 a0001c0030 a0001c0032 a0001c0036 a0001c0039 a0001c0085 a0001c0086 a0002c0105 a0002c0109 a0002c0111 a0002c0113 a0003c0003 a0003c0026 a0004c0022 a0004c0055 a0007c0096 a0031c0120 a0032c0121	a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 others(33): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 a0001c0004t0001 a0001c0005t0004 a0001c0006t0002 a0001c0006t0006 a0001c0007t0005 a0001c0007t0040 a0001c0009t0002 a0001c0010t0005 a0001c0010t0008 a0001c0012t0015 a0001c0013t0001 a0001c0017t0002 a0001c0017t0017 a0001c0020t0002 a0001c0030t0021 a0001c0030t0039 a0001c0032t0002 a0001c0036t0002 a0001c0039t0001 a0001c0085t0001 a0001c0086t0002 a0002c0105t0018 a0002c0109t0001 a0002c0111t0005 a0002c0113t0003 a0003c0003t0002 a0003c0003t0006 a0003c0026t0001 a0004c0022t0002 a0004c0055t0031 a0007c0096t0007 a0031c0120t0004 a0032c0121t0007	a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0001g0190 others(46): Show a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0001g0190 a0001c0001t0001g0211 a0001c0001t0013g0179 a0001c0002t0003g0106 a0001c0002t0003g0111 a0001c0002t0003g0197 a0001c0002t0003g0215 a0001c0002t0003g0243 a0001c0004t0001g0007 a0001c0005t0004g0020 a0001c0006t0002g0008 a0001c0006t0002g0119 a0001c0006t0002g0153 a0001c0006t0006g0170 a0001c0007t0005g0213 a0001c0007t0040g0194 a0001c0009t0002g0101 a0001c0009t0002g0180 a0001c0010t0005g0189 a0001c0010t0008g0253 a0001c0012t0015g0074 a0001c0013t0001g0184 a0001c0013t0001g0245 a0001c0017t0002g0100 a0001c0017t0017g0044 a0001c0020t0002g0247 a0001c0030t0021g0166 a0001c0030t0039g0118 a0001c0032t0002g0123 a0001c0036t0002g0241 a0001c0039t0001g0171 a0001c0085t0001g0254 a0001c0086t0002g0185 a0002c0105t0018g0168 a0002c0109t0001g0024 a0002c0111t0005g0017 a0002c0113t0003g0155 a0003c0003t0002g0006 a0003c0003t0002g0174 a0003c0003t0006g0005 a0003c0003t0006g0159 a0003c0026t0001g0076 a0004c0022t0002g0192 a0004c0055t0031g0154 a0007c0096t0007g0124 a0031c0120t0004g0019 a0032c0121t0007g0169	49	254	0.1929	-296	c.-20 others(21): Show c.-207-25421_-207-25126del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124507389	GAGTATTT others(289): Show GAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG01952.hp1 HG00323.hp1 HG01192.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0100 a0001c0001t0001g0185 a0001c0001t0001g0186	3	260	0.0115	-296	c.624 others(17): Show c.624+9264_625-9493del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507463	GAGGATTT others(289): Show GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	260	0.0039	-296	c.624 others(17): Show c.624+9349_625-9408del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507500	TGGGGGGA others(289): Show TGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp2 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0243 a0001c0001t0001g0201 a0001c0001t0001g0243	2	260	0.0077	-296	c.624 others(17): Show c.624+9379_625-9378del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	960854	CACAGACT others(289): Show CACAGACTCACGGTGACAACACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01993.hp1 HG02135.hp2 others(1): Show HG00621.hp2 HG01993.hp1 HG02135.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0001 a0001c0004t0001 a0001c0004t0016 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0016 a0001c0013t0001	a0001c0002t0001g0044 a0001c0004t0001g0091 a0001c0004t0016g0025 others(1): Show a0001c0002t0001g0044 a0001c0004t0001g0091 a0001c0004t0016g0025 a0001c0013t0001g0045	4	294	0.0136	-296	c.194 others(17): Show c.194-6484_194-6189del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
MLPH_chr2_237482251_237560322	237543404	TGGGGGAC others(289): Show TGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACA GTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	286	0.0035	-296	c.153 others(18): Show c.1539+750_1539+1045del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOGS_chr2_74456057_74470382	74463928	GCTGGGAT others(289): Show GCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTCTTG AGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCT CGGCTCAGCGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCTTGGATCACAGGCATGCGCCACCACGCCCGGCTAAT TTTATATTTTCAGTAGAGACGGTGTTTCTCCATTTTGGTCAGGCTGGTCT GGAACTCCTGACCTCAGGTGATCCGCCAGCCTCGGCCTCCCAAAGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	362	0.0028	-296	c.579 others(15): Show c.579+272_580-543del	MOGS	ENSG00000115275.15	transcript	ENST00000448666.7	protein_coding	2/3			chr2	TogoVar
NCAPD3_chr11_134145113_134228967	134166255	TGGGGGAG others(289): Show TGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCAC TAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGG GAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACT AGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGG GGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGA GATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0302 a0001c0001t0033g0302	1	370	0.0027	-296	c.357 others(19): Show c.3573+1445_3573+1740del	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	27/34			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667328	CGCTACTG others(289): Show CGCTACTGTGTCCCTCCGCTCCTTAGCCACTACCGGATCCCTCCGCCCCC CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0220 a0001c0001t0002g0218 a0001c0001t0001g0220 a0001c0001t0002g0218	2	378	0.0053	-296	c.148 others(19): Show c.1480-2874_1480-2579del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241806497	TCCCTCCC others(289): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 NA18747.hp2 HG01261.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0001 a0001c0015t0001 a0001c0004t0001 a0001c0015t0001	a0001c0004t0001g0005 a0001c0015t0001g0052 a0001c0004t0001g0005 a0001c0015t0001g0052	2	319	0.0063	-296	c.-27 others(11): Show c.-2780_-2485del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2695		chr2	TogoVar
PDE6B_chr4_620573_675782	668636	GCTACCCC others(289): Show GCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCATGCT ATTCCCGCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTATGC CATGCTATTCCCCTACCCCATGCTATTCCCCTACCCCATGCTGCTCCCAC TACCCCACGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTAT TCCCCTACCCCATGCTATTCCCGCTATGCCATGCTATTCCCGCTACCCCA TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02970.hp2 HG03486.hp2 others(1): Show HG01975.hp2 HG02970.hp2 HG03486.hp2 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0269 a0002c0003t0005g0270 a0002c0003t0005g0272 others(1): Show a0002c0003t0005g0269 a0002c0003t0005g0270 a0002c0003t0005g0272 a0002c0003t0005g0273	4	308	0.0130	-296	c.250 others(17): Show c.2503+680_2503+975del	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PKD1_chr16_2083708_2140898	2127901	CCAGGGAG others(289): Show CCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGG GCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGG AGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGG TGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGAGGGAGGGAG AGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAG GGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01258.hp1 HG01346.hp2 others(6): Show HG00323.hp1 HG01258.hp1 HG01346.hp2 HG02723.hp1 HG02735.hp2 HG02970.hp2 HG03486.hp2 HG04115.hp2 NA20752.hp1	a0001 a0003 a0012 others(3): Show a0001 a0003 a0012 a0017 a0027 a0057	a0001c0044 a0003c0042 a0003c0043 others(5): Show a0001c0044 a0003c0042 a0003c0043 a0012c0106 a0012c0120 a0017c0015 a0027c0045 a0057c0046	a0001c0044t0001 a0003c0042t0012 a0003c0043t0001 others(5): Show a0001c0044t0001 a0003c0042t0012 a0003c0043t0001 a0012c0106t0012 a0012c0120t0014 a0017c0015t0011 a0027c0045t0002 a0057c0046t0011	a0001c0044t0001g0204 a0003c0042t0012g0203 a0003c0043t0001g0206 others(6): Show a0001c0044t0001g0204 a0003c0042t0012g0203 a0003c0043t0001g0206 a0012c0106t0012g0205 a0012c0120t0014g0202 a0017c0015t0011g0199 a0017c0015t0011g0200 a0027c0045t0002g0207 a0057c0046t0011g0201	9	216	0.0417	-296	c.215 others(17): Show c.215+7278_215+7573del	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PLEKHG7_chr12_92697989_92777455	92727987	CACACACC others(289): Show CACACACCACATTCCATGGTGTATATATAAATATATATACACACCACATT CCATGGTGTATATATAAATATATATACACACCACATTCCATGGTGTATAT ATAAATATATATACACACCACATTCCATGGTGTATATATAAATATATATA CACACCACATTCCATGGTGTATATATAAATATATATACACACCACATTCC ATGGTGTATATATAAATATATATACACACCACATTCCATGGTGTATATAT AAATATATATACACACCACATTCCATGGTGTATATATAAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0198 a0002c0003t0008g0198	1	252	0.0040	-296	c.531 others(15): Show c.531-837_531-542del	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP1R8_chr1_27825782_27856676	27853745	GGGGGGGT others(289): Show GGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02486.hp1 others(3): Show HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02970.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0085 a0001c0001t0001g0086	6	340	0.0177	-296	c.33 others(11): Show c.3300_*3595del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2070		chr1	TogoVar
RASA3_chr13_113972783_114137623	114005830	CGGACGCC others(289): Show CGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACACCACCTTA CCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCA CTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCTCC TGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0024 a0001c0001t0001g0051	2	67	0.0299	-296	c.174 others(19): Show c.1742+1407_1742+1702del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RPH3AL_chr17_207389_357807	286967	CCTCTCTC others(289): Show CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACC TCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(28): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG01192.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG02135.hp2 HG02165.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG02895.hp2 HG02976.hp2 HG03453.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18951.hp1 NA18959.hp2 NA18963.hp2 NA18993.hp2 NA18995.hp1 NA19003.hp1 NA19079.hp1 NA19088.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0005c0010 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0030 a0001c0003t0036 a0001c0004t0001 a0001c0006t0004 a0002c0005t0005 a0005c0010t0003 a0008c0013t0003	a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0043 others(28): Show a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0002g0069 a0001c0001t0002g0109 a0001c0001t0006g0095 a0001c0001t0007g0097 a0001c0001t0008g0042 a0001c0001t0010g0129 a0001c0001t0012g0053 a0001c0001t0014g0106 a0001c0001t0021g0077 a0001c0001t0031g0067 a0001c0001t0033g0063 a0001c0001t0035g0074 a0001c0002t0003g0090 a0001c0002t0029g0103 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0003t0030g0122 a0001c0003t0036g0064 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0006t0004g0022 a0002c0005t0005g0035 a0005c0010t0003g0085 a0008c0013t0003g0037	31	133	0.2331	-296	c.352 others(17): Show c.352-5409_352-5114del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RRP12_chr10_97351701_97406340	97398057	TTTTTTTT others(289): Show TTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0290 a0003c0002t0001g0290	1	400	0.0025	-296	c.369 others(17): Show c.369+1952_370-1757del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SBNO2_chr19_1102638_1179268	1148485	CCACCCCA others(289): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCATCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0009 a0001c0010t0001 a0001c0006t0009 a0001c0010t0001	a0001c0006t0009g0012 a0001c0010t0001g0181 a0001c0006t0009g0012 a0001c0010t0001g0181	2	203	0.0099	-296	c.167 others(15): Show c.167+588_167+883del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	TCCTCCTT others(289): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	203	0.0049	-296	c.167 others(15): Show c.167+373_167+668del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288273	TCCCCCGA others(289): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp1 NA19077.hp2 HG01106.hp2 HG01261.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0002c0002t0001g0010 a0001c0001t0001g0222 a0001c0001t0001g0223 a0002c0002t0001g0010	3	290	0.0103	-296	c.166 others(17): Show c.1662+240_1662+535del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243262053	GCCTGCCT others(289): Show GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTG CCCGACTTTTTTTTTTTCTTTTGAGACAGGGTCTTATTCTTTTGCCCAGG CTGGAGTGCAGTGATGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGAG TTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACAGGTG CCACCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGGCAGGGTTTC ACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01192.hp2 others(17): Show HG00140.hp2 HG00423.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01516.hp2 HG01952.hp1 HG01993.hp2 HG02056.hp2 HG02293.hp2 HG02300.hp2 HG02809.hp1 HG03942.hp2 HG04204.hp2 NA18946.hp2 NA18971.hp1 NA19000.hp2 NA19065.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0002t0001g0009 a0001c0002t0001g0015	20	189	0.1058	-296	c.67+ others(15): Show c.67+5858_67+6153del	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SFMBT2_chr10_7153624_7416034	7378180	GAGTGTGG others(289): Show GAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGTGTGATGGATGGGTGTG AGTGTGGGTGTGTGTGGGTGTACGTGTGGATGGGTGATGGATGGGTGTGA GTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGTGA GTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGATGGATGGGTGTGAG TGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGTGAG TGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGATGGATGGGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01517.hp2 others(15): Show HG01081.hp1 HG01109.hp1 HG01517.hp2 HG01884.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0030 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0003t0006	a0001c0001t0001g0061 a0001c0001t0002g0122 a0001c0001t0004g0028 others(15): Show a0001c0001t0001g0061 a0001c0001t0002g0122 a0001c0001t0004g0028 a0001c0001t0004g0052 a0001c0001t0004g0077 a0001c0001t0007g0002 a0001c0001t0007g0017 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0013g0008 a0001c0001t0014g0060 a0001c0001t0030g0032 a0001c0001t0035g0082 a0001c0002t0001g0009 a0001c0002t0002g0016 a0001c0003t0006g0005 a0001c0003t0006g0006	18	144	0.1250	-296	c.100 others(17): Show c.100+3323_100+3618del	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SRSF4_chr1_29142743_29186900	29183991	TCCTCAGC others(289): Show TCCTCAGCCTCTAGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCG GCTAATTTTTTTGTATTTTAGTAGAGAAGGGGTTTCACTATGTTGGCCAG GCTGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAGA GTGCTGGGACTACAGGCGTGAGCCACTGTACCCGGCTTTTTTTTTTTTTT TTTGAGATGGAGTCTTGGTCTGTTGCCCAAGATGGAGTGTAGTGGCACTA TCTTGGCTCACTGCAGTCTCTGCCTCCAGGTTCAAGCAATTCTCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0099 a0003c0003t0001g0099	1	368	0.0027	-296	c.-25 others(11): Show c.-2535_-2240del	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding		2092		chr1	TogoVar
TAF4_chr20_61969798_62070881	62057664	CGGGGGGC others(289): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTC AGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCG GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(35): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02056.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp2 NA18522.hp2 NA18945.hp2 NA18967.hp2 NA18980.hp2 NA19063.hp1 NA19066.hp1 NA19082.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0001 a0005 a0011 others(2): Show a0001 a0005 a0011 a0014 a0016	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0005c0011 a0011c0033 a0014c0023 a0016c0021	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0005c0011t0001 a0011c0033t0001 a0014c0023t0001 a0016c0021t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 others(35): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0003t0001g0041 a0001c0003t0001g0057 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0185 a0001c0008t0001g0024 a0005c0011t0001g0003 a0011c0033t0001g0305 a0014c0023t0001g0027 a0016c0021t0001g0019	38	314	0.1210	-296	c.136 others(19): Show c.1360+6491_1360+6786del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TBC1D9_chr4_140615782_140761385	140712153	CATATCTA others(289): Show CATATCTAAATGAGAGGCTCCCTCAAAAACACACTTCCTTGGAGAGGGAC CTGGCGTTTACATTTTAGAAATTTTTTTTTGAAGTTCATTTTTTCCCTCT GGTATACGGAGTTCATCAATGCTACAAACTGGTACGTATTCATACACACT GAATCACATTCCTTACTCCAGTTGCAGGCACTTGATGTTTAATAACTAGT TTATCTCAAGTCAGGAAGTTTACAGTGTCAAAATGAATCAAATTGATTTT ACCATTTTTATCAAGTATTCTCTGAATATGCTCTTTAAAAAAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01975.hp1 HG01978.hp2 others(12): Show HG01257.hp1 HG01975.hp1 HG01978.hp2 HG02165.hp2 HG02698.hp2 HG03540.hp1 NA18963.hp1 NA18991.hp2 NA19009.hp2 NA19030.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0018t0001	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0139 others(12): Show a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0016g0295 a0001c0018t0001g0174	15	298	0.0503	-296	c.131 others(19): Show c.131-10835_131-10540del	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TMIGD2_chr19_4287227_4307389	4300153	TGGGAGGC others(289): Show TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCA GTGACCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGGC TCTGTCTCAAACAAAACAAAACAAGGCCGGGTGCAGTGGCTCACGCCTAT AATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACGAGGTCAGGAGA TCAAGACCATCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAATTAGCTGGGTGTGGTGGCATGTACCCGTAGTCCCAGCTACTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0306 a0001c0007t0001g0306	1	436	0.0023	-296	c.46+ others(15): Show c.46+1891_47-1809del	TMIGD2	ENSG00000167664.9	transcript	ENST00000595645.6	protein_coding	1/4			chr19	TogoVar

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