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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DIP2C_chr10_269201_694668	556061	TCGGATCC others(294): Show TCGGATCCCAGGACAGCACCCACCCACCCCCCCTTCCATAGCCGGATCCC CGGACAGCAACCACCCACCCCCTTCCACAGCCGGATCCGAGGACGGCACC CACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCAC AGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCA GGACGGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA CCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACA GC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0005 a0001c0002t0003g0006	2	88	0.0227	-301	c.86- others(17): Show c.86-69832_86-69532del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
EDDM13_chr19_56267748_56315454	56282492	GCTGAAAG others(294): Show GCTGAAAGGTAAGCTTCTCATTCCATCTCTTTCCCTTTGGGGTCTGTTTG CCTTTGTCCAAAAGGGATCATTGCTGCTGAACTTCGACTTACGTTTCTTC TCTGGTCTGTTCACAGCTTAGCTTCTAATAGCGGAACTAGTAAAACCAAG TGTGGAATTGTCCTTTGATGAACAACAACAACAACAAAAGCCCTTTTACT TGTCTCCCCTCAAAGCCACTTGTCCAGAAACTGAGCACTCTTTCATGGTC CGCACATGGCTCAAGGAAAGCTATTAGGTCTGAGAGCTCAATTCAGGTCT AC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18956.hp2 NA18956.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0291 a0004c0008t0001g0291	1	396	0.0025	-301	c.116 others(11): Show c.116_118+298del	p.Lys others(17): Show p.Lys39_Gly40delinsArg	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	4/15	203/879	116/486	39/161		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(294): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0160 a0007c0012t0001g0160	1	170	0.0059	-301	c.354 others(17): Show c.3540+459_3540+759del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
ERFL_chr19_41902704_41933449	41914556	TTCCACCA others(294): Show TTCCACCATCTCTGTCTCCGTCTCTCCCTCCCTTTCCACCATCTCTGTCT CTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACC ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTC CACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCC CTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCC TCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCC CC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 NA18966.hp1 others(2): Show HG00408.hp1 HG02027.hp1 NA18966.hp1 NA18967.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0024 a0001c0001t0001g0172 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0002t0004g0161	5	330	0.0152	-301	c.-13 others(17): Show c.-13-1925_-13-1625del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ESYT2_chr7_158725997_158834509	158729293	GGGGAAGA others(294): Show GGGGAAGAGCAAGCGTGGAGGTGTTGGGAGAAGCAAGTGTGGATGTGCAA GCGTGGAGGTGGGGGGCTTGGCGCAAGCGTGGAGGTGCTGGGGGGAGGAG CAAGGTGGAGGTTGGGACTGGAGCAAATGTGGAGGTGCTGGGGGGAGGAG CAGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGGAGGTGCTGGGGGGAG GAGCAGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGGAGGCGGGAGGGT TGGAGCAGGTGTGGAGGTGCTGTGGAAGAGGGGCAAGTGAGGATGTGCTG GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(70): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG01074.hp1 HG01099.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18967.hp1 NA18968.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0013 others(3): Show a0001c0001 a0002c0002 a0002c0013 a0002c0021 a0003c0003 a0003c0017	a0001c0001t0002 a0001c0001t0043 a0002c0002t0002 others(6): Show a0001c0001t0002 a0001c0001t0043 a0002c0002t0002 a0002c0002t0038 a0002c0002t0040 a0002c0013t0002 a0002c0021t0002 a0003c0003t0004 a0003c0017t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0052 others(69): Show a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0052 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0043g0129 a0002c0002t0002g0037 a0002c0002t0002g0227 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0319 a0002c0002t0038g0315 a0002c0002t0040g0255 a0002c0013t0002g0261 a0002c0013t0002g0293 a0002c0021t0002g0305 a0003c0003t0004g0340 a0003c0003t0004g0341 a0003c0017t0002g0322	73	370	0.1973	-301	c.46 others(11): Show c.4613_*4913del		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding					1703		chr7	TogoVar
FBLIM1_chr1_15753795_15791589	15785074	TTGTAATC others(294): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAA AAATACAAAAATTAGCCAGGCATGGTAGCAGGTGCCTGTAATCCCAGCTA CTGGGGAAAGCTGAGGCAGGAGAATTGCTTCAATCTGGAAGGCAGAGGTT GCAGTGAGATTGCACCATTGCATTCCAGCCTGGGCAACAAGAGGGAAACT CCGTCTCAAAAAAAAAAAAGTGCCTTTTAGGCCGGATGTGGTGGCTCATG CC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0272 a0001c0001t0020g0272	1	354	0.0028	-301	c.44 others(9): Show c.443_*743del		FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding	9/9				443	INFO_REALIGN_3_PRIME	chr1	TogoVar
FNDC11_chr20_63549159_63561695	63559418	GAGTCAGG others(294): Show GAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAGGG TCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGA GTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGG GTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGG AGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAG GGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAG TC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG04199.hp1 HG03516.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	2	416	0.0048	-301	c.27 others(11): Show c.2799_*3099del		FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding					2724		chr20	TogoVar
FOXP1_chr3_70949708_71588728	71193186	TGCCCAGG others(294): Show TGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCAGGTTCACGCCATTCTCCTACCTCAGCCTCCAGAGTAGCTGGGAC TGCAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTTAGTAGA GGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGT GATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCGCCCAGCCGTTATTTGTTTTTTTTTTTTAGACATATTCTCACTTTG TC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01109.hp2 others(46): Show HG00735.hp2 HG01109.hp1 HG01109.hp2 HG01884.hp1 HG01952.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0057 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0076 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0002g0051 others(46): Show a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0002g0051 a0001c0001t0003g0086 a0001c0001t0004g0009 a0001c0001t0004g0056 a0001c0001t0006g0092 a0001c0001t0007g0067 a0001c0001t0009g0016 a0001c0001t0010g0073 a0001c0001t0011g0001 a0001c0001t0012g0063 a0001c0001t0014g0066 a0001c0001t0015g0050 a0001c0001t0016g0041 a0001c0001t0021g0042 a0001c0001t0022g0047 a0001c0001t0023g0045 a0001c0001t0024g0055 a0001c0001t0027g0046 a0001c0001t0028g0049 a0001c0001t0029g0071 a0001c0001t0031g0079 a0001c0001t0032g0089 a0001c0001t0033g0057 a0001c0001t0034g0040 a0001c0001t0035g0082 a0001c0001t0036g0094 a0001c0001t0038g0013 a0001c0001t0044g0078 a0001c0001t0046g0017 a0001c0001t0048g0031 a0001c0001t0049g0070 a0001c0001t0051g0081 a0001c0001t0052g0084 a0001c0001t0053g0074 a0001c0001t0057g0048 a0001c0001t0065g0035 a0001c0001t0066g0023 a0001c0001t0067g0006 a0001c0001t0071g0064 a0001c0001t0072g0005 a0001c0001t0074g0069 a0001c0001t0076g0024 a0001c0001t0079g0014 a0001c0001t0081g0018 a0001c0001t0082g0007 a0001c0001t0083g0020 a0001c0001t0084g0061	49	96	0.5104	-301	c.180 others(17): Show c.180+4715_180+5015del		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20						chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1319457	ATTAGCCG others(294): Show ATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGG CCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCA ACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGG TGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATC ACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCG TCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTA AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	-301	c.55 others(11): Show c.5542_*5842del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4700		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806727	TCCCCCCT others(294): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	314	0.0032	-301	c.25 others(11): Show c.2562_*2862del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2441		chr2	TogoVar
HELZ2_chr20_63553086_63579239	63559418	GAGTCAGG others(294): Show GAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAGGG TCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGA GTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGG GTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGG AGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAG GGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAG TC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG04199.hp2 HG03516.hp2 HG04199.hp2	a0002 a0077 a0002 a0077	a0002c0002 a0077c0049 a0002c0002 a0077c0049	a0002c0002t0007 a0077c0049t0087 a0002c0002t0007 a0077c0049t0087	a0002c0002t0007g0327 a0077c0049t0087g0250 a0002c0002t0007g0327 a0077c0049t0087g0250	2	390	0.0051	-301	c.782 others(16): Show c.7825+209_7826-49del		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HELZ2_chr20_63553086_63579239	63559486	GGTCAGGT others(294): Show GGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTG GGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGT GGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTCGGAGTCAGG GTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGG GAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCA GA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0045 a0045	a0045c0095 a0045c0095	a0045c0095t0005 a0045c0095t0005	a0045c0095t0005g0295 a0045c0095t0005g0295	1	390	0.0026	-301	c.782 others(17): Show c.7825+141_7826-117del		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
KIAA1671_chr22_24947716_25202448	25000191	TTTTTTTT others(294): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC GCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02257.hp2 HG02486.hp2 others(8): Show HG02155.hp1 HG02257.hp2 HG02486.hp2 HG02622.hp2 HG03239.hp1 HG04228.hp2 NA18954.hp1 NA19000.hp2 NA19009.hp2 NA19056.hp2 NA19066.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0002c0112 a0003c0025 a0005c0011 a0009c0028	a0001c0001t0001 a0001c0002t0003 a0001c0006t0038 others(5): Show a0001c0001t0001 a0001c0002t0003 a0001c0006t0038 a0001c0014t0006 a0002c0112t0041 a0003c0025t0011 a0005c0011t0042 a0009c0028t0002	a0001c0001t0001g0136 a0001c0002t0003g0133 a0001c0002t0003g0135 others(8): Show a0001c0001t0001g0136 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0238 a0001c0006t0038g0236 a0001c0014t0006g0143 a0002c0112t0041g0001 a0003c0025t0011g0026 a0005c0011t0042g0002 a0009c0028t0002g0051 a0009c0028t0002g0056	11	254	0.0433	-301	c.-20 others(21): Show c.-207-25423_-207-25123del		KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
LAPTM4A_chr2_20027650_20056628	20047205	CGGTGAAA others(294): Show CGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCCCGACATGGTG GCGGGTGCCTGTAGTCCCAGCTATTTGGGAGGCTGGGGCAGAGGAATCGC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCAC TCCAGCCTGGTGACAGAGCAAGACTCTGTCTCAAAAAAGAAAAAAAAAAA AAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	424	0.0024	-301	c.111 others(17): Show c.111+3904_111+4204del		LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6						chr2	TogoVar
MBP_chr18_76973833_77137783	77057814	GGCGGGGA others(294): Show GGCGGGGAGTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTTTTT AATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTGTCGATCTCCTGA CCTCGTGTTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(293): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0005 a0002c0006 a0003c0004 a0004c0007 a0005c0008 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0043 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0052 a0001c0003t0010 a0001c0003t0023 a0001c0003t0024 a0001c0003t0025 a0001c0009t0001 a0002c0005t0001 a0002c0006t0001 a0002c0006t0005 a0003c0004t0011 a0003c0004t0013 a0004c0007t0001 a0005c0008t0011 a0005c0008t0012 a0007c0010t0019	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(293): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0002g0239 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0271 a0001c0001t0002g0281 a0001c0001t0002g0294 a0001c0001t0002g0302 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0330 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0001t0003g0055 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0151 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0201 a0001c0001t0004g0020 a0001c0001t0004g0023 a0001c0001t0004g0031 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0004g0078 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0119 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0137 a0001c0001t0004g0168 a0001c0001t0004g0217 a0001c0001t0005g0234 a0001c0001t0005g0236 a0001c0001t0005g0251 a0001c0001t0005g0255 a0001c0001t0005g0259 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0267 a0001c0001t0005g0280 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0298 a0001c0001t0005g0300 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0006g0229 a0001c0001t0006g0246 a0001c0001t0006g0266 a0001c0001t0006g0270 a0001c0001t0006g0285 a0001c0001t0006g0295 a0001c0001t0006g0299 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0310 a0001c0001t0006g0313 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0329 a0001c0001t0007g0333 a0001c0001t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0348 a0001c0001t0007g0358 a0001c0001t0007g0362 a0001c0001t0007g0370 a0001c0001t0007g0373 a0001c0001t0008g0335 a0001c0001t0008g0346 a0001c0001t0008g0349 a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0356 a0001c0001t0008g0359 a0001c0001t0008g0366 a0001c0001t0008g0371 a0001c0001t0009g0017 a0001c0001t0009g0034 a0001c0001t0009g0041 a0001c0001t0009g0065 a0001c0001t0009g0072 a0001c0001t0009g0080 a0001c0001t0009g0083 a0001c0001t0009g0118 a0001c0001t0009g0128 a0001c0001t0009g0133 a0001c0001t0009g0144 a0001c0001t0009g0147 a0001c0001t0009g0152 a0001c0001t0009g0180 a0001c0001t0009g0207 a0001c0001t0009g0215 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0175 a0001c0001t0010g0209 a0001c0001t0011g0140 a0001c0001t0011g0148 a0001c0001t0011g0163 a0001c0001t0011g0165 a0001c0001t0011g0206 a0001c0001t0011g0213 a0001c0001t0012g0006 a0001c0001t0013g0146 a0001c0001t0014g0254 a0001c0001t0014g0268 a0001c0001t0014g0278 a0001c0001t0014g0284 a0001c0001t0015g0340 a0001c0001t0015g0357 a0001c0001t0015g0365 a0001c0001t0015g0368 a0001c0001t0016g0372 a0001c0001t0017g0166 a0001c0001t0018g0222 a0001c0001t0018g0224 a0001c0001t0020g0301 a0001c0001t0022g0013 a0001c0001t0022g0204 a0001c0001t0023g0221 a0001c0001t0024g0227 a0001c0001t0026g0364 a0001c0001t0026g0376 a0001c0001t0027g0385 a0001c0001t0029g0394 a0001c0001t0031g0113 a0001c0001t0032g0143 a0001c0001t0036g0200 a0001c0001t0037g0010 a0001c0001t0038g0059 a0001c0001t0039g0105 a0001c0001t0041g0225 a0001c0001t0042g0220 a0001c0001t0044g0305 a0001c0001t0045g0304 a0001c0001t0046g0331 a0001c0001t0047g0332 a0001c0001t0051g0387 a0001c0001t0054g0391 a0001c0002t0001g0004 a0001c0002t0001g0019 a0001c0002t0001g0048 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0127 a0001c0002t0001g0136 a0001c0002t0001g0142 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0162 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0212 a0001c0002t0002g0230 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0257 a0001c0002t0002g0265 a0001c0002t0002g0275 a0001c0002t0002g0283 a0001c0002t0002g0289 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0309 a0001c0002t0004g0111 a0001c0002t0006g0272 a0001c0002t0006g0288 a0001c0002t0007g0336 a0001c0002t0007g0337 a0001c0002t0007g0347 a0001c0002t0007g0360 a0001c0002t0007g0363 a0001c0002t0007g0379 a0001c0002t0007g0381 a0001c0002t0007g0382 a0001c0002t0008g0369 a0001c0002t0008g0377 a0001c0002t0010g0198 a0001c0002t0011g0129 a0001c0002t0012g0160 a0001c0002t0019g0276 a0001c0002t0019g0286 a0001c0002t0021g0293 a0001c0002t0028g0386 a0001c0002t0029g0393 a0001c0002t0030g0093 a0001c0002t0043g0218 a0001c0002t0048g0361 a0001c0002t0049g0380 a0001c0002t0050g0354 a0001c0002t0052g0388 a0001c0003t0010g0005 a0001c0003t0010g0015 a0001c0003t0010g0210 a0001c0003t0010g0211 a0001c0003t0023g0223 a0001c0003t0024g0219 a0001c0003t0025g0228 a0001c0003t0025g0245 a0001c0009t0001g0205 a0002c0005t0001g0126 a0002c0006t0001g0189 a0002c0006t0005g0320 a0003c0004t0011g0134 a0003c0004t0013g0073 a0003c0004t0013g0115 a0003c0004t0013g0138 a0003c0004t0013g0150 a0004c0007t0001g0153 a0004c0007t0001g0191 a0005c0008t0011g0011 a0005c0008t0012g0135 a0007c0010t0019g0282	296	396	0.7475	-301	c.139 others(17): Show c.139+8183_139+8483del		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MMD2_chr7_4900998_4964187	4901097	ACCACTGC others(294): Show ACCACTGCACTCCAGCCTGGGCGACATGAGTAAAACACTATCTAAAAAAA AAGTGGGATATAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCACCACC TTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAG CCTGACTAACTCGGTGAAATCACGTCTCTACTAAAAATACAAAAATTAAC TGAGCATAGTGGTATGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AAGAGAATCTCTTGAACCCGGGAGGCAGAGTTTCCAGTGAGCCAAGATCA CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	382	0.0026	-301	c.59 others(11): Show c.5998_*6298del		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding					4900		chr7	TogoVar
MRPL57_chr13_21171658_21184084	21175117	AGGCGCCC others(294): Show AGGCGCCCACTACTATGCCCAGCTAATTGTTTTGTATTTTTAGTAGAGAC GAGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGCG ATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGTGCCAC CGTGCACGGCCAAATCTTTTTTTCTTTTTGAGACGGACTCTTGCTCTGTC GCCGAGGCTGGAGTGCAGTGGCGGATCTCGGCTCACTGCAAGTTCCGCCT CCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTA CC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02572.hp2 HG02615.hp1 others(3): Show HG01074.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0002 a0001c0001t0015g0002 a0001c0001t0001g0002 a0001c0001t0015g0002	6	412	0.0146	-301	c.-16 others(11): Show c.-1605_-1305del		MRPL57	ENSG00000173141.5	transcript	ENST00000309594.5	protein_coding					1540		chr13	TogoVar
NLRP4_chr19_55831540_55886855	55851247	TTACGAGG others(294): Show TTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACCGAGGCTGCGGTGTAA TG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0396 a0001c0005t0001g0397 a0001c0001t0001g0396 a0001c0005t0001g0397	2	424	0.0047	-301	c.-65 others(15): Show c.-65-767_-65-467del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
OR2V2_chr5_181142586_181164285	181163984	CAGCCGTC others(294): Show CAGCCGTCCATCCATCTCAGCCTTCCAAGTGCTGAAACGTCCTTTTCTTG TGTGCTCATGCCCATTAGCCAAGCTCGAAGGGACGCATGGAGGAAGCTCA GAATTACCATGAGAAATAAAATGCGGCCTTGTGTGGTGGCTCATTGTGGT GGGTCAGAAAACGCGTGCAAGTTTCCGTAGTGTAGTGGTTATCACGTTCG CCTAACACGCGAAAGGTCCCCGGTTCGAAACCGGGCGGAAACAGAATCTT ATGCTTTTCATCTCATTACTTCAAATTTATTACAAGAAAACTAGCCTGGA AC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(37): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02559.hp1 HG03195.hp1 HG04199.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18981.hp1 NA18987.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19005.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19082.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0037 a0002c0002t0001 others(9): Show a0001c0001t0002 a0001c0001t0037 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0018 a0002c0002t0040 a0002c0002t0077 a0002c0002t0099 a0002c0002t0100 a0002c0002t0102	a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0037g0071 others(21): Show a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0037g0071 a0001c0001t0037g0083 a0002c0002t0001g0002 a0002c0002t0001g0028 a0002c0002t0004g0003 a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0006g0003 a0002c0002t0006g0017 a0002c0002t0006g0018 a0002c0002t0006g0043 a0002c0002t0010g0003 a0002c0002t0010g0017 a0002c0002t0010g0025 a0002c0002t0010g0026 a0002c0002t0010g0047 a0002c0002t0018g0026 a0002c0002t0040g0032 a0002c0002t0077g0025 a0002c0002t0099g0020 a0002c0002t0100g0020 a0002c0002t0102g0020	40	424	0.0943	-301	c.80 others(11): Show c.8095_*8395del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					4700		chr5	TogoVar
POLE3_chr9_113402235_113415675	113406669	TGATCATG others(294): Show TGATCATGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGGCTCCGTCTA CAAAAAAAAAAAGCTCTTTCAGCAGGTGTGTTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTC AGACTAGCCTAGCCAACATGGTGAAACCCTGTCTCCACTAAAAATATAAA AATTAGCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACCTGGGAGG CTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCC GA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01496.hp2 HG00140.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	356	0.0056	-301	c.18 others(11): Show c.1841_*2141del		POLE3	ENSG00000148229.13	transcript	ENST00000374171.5	protein_coding					565		chr9	TogoVar
POMZP3_chr7_76604986_76632279	76616560	TTAAAAGC others(294): Show TTAAAAGCTACTTGAGGCTGGGCATGGTGGCTCACGCCTGTAATCTCAGC ACTTTTGGAGGCCGATGCAGGTGGATCACAAGGTCAGGAGTTCCAGACCA GCCTGGCCAACATGGTGAAACCCAATCTCTAGTAAGAATACAAAAGTTAG CCGGGTGTGGTGGCAGGCACCTGTAATTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAAATGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGAC TGTGCCATTGCATTCCAGCCTGGACTGCAGAGCGAGACTCCAACTCAAAA AA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(211): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0002 a0000c0004 a0000c0005 others(7): Show a0000c0002 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0009 a0000c0010 a0000c0013 a0001c0001 a0004c0012	a0000c0002t0002 a0000c0002t0003 a0000c0002t0004 others(26): Show a0000c0002t0002 a0000c0002t0003 a0000c0002t0004 a0000c0002t0007 a0000c0002t0008 a0000c0002t0011 a0000c0002t0013 a0000c0002t0014 a0000c0002t0015 a0000c0002t0016 a0000c0002t0022 a0000c0002t0023 a0000c0002t0024 a0000c0002t0025 a0000c0002t0026 a0000c0002t0027 a0000c0002t0029 a0000c0002t0030 a0000c0004t0003 a0000c0004t0013 a0000c0004t0018 a0000c0005t0004 a0000c0006t0003 a0000c0007t0003 a0000c0009t0003 a0000c0010t0003 a0000c0013t0004 a0001c0001t0005 a0004c0012t0028	a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 others(184): Show a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 a0000c0002t0002g0015 a0000c0002t0002g0016 a0000c0002t0002g0087 a0000c0002t0002g0088 a0000c0002t0002g0089 a0000c0002t0002g0090 a0000c0002t0002g0091 a0000c0002t0002g0092 a0000c0002t0002g0093 a0000c0002t0002g0094 a0000c0002t0002g0095 a0000c0002t0002g0096 a0000c0002t0002g0097 a0000c0002t0002g0098 a0000c0002t0002g0099 a0000c0002t0002g0100 a0000c0002t0002g0101 a0000c0002t0002g0102 a0000c0002t0002g0103 a0000c0002t0002g0104 a0000c0002t0002g0105 a0000c0002t0002g0106 a0000c0002t0002g0107 a0000c0002t0002g0108 a0000c0002t0002g0109 a0000c0002t0002g0110 a0000c0002t0002g0111 a0000c0002t0002g0112 a0000c0002t0002g0113 a0000c0002t0002g0114 a0000c0002t0002g0115 a0000c0002t0002g0116 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0002g0119 a0000c0002t0002g0120 a0000c0002t0002g0121 a0000c0002t0002g0122 a0000c0002t0002g0123 a0000c0002t0002g0124 a0000c0002t0002g0125 a0000c0002t0002g0126 a0000c0002t0002g0127 a0000c0002t0002g0128 a0000c0002t0002g0129 a0000c0002t0002g0130 a0000c0002t0002g0131 a0000c0002t0002g0132 a0000c0002t0002g0133 a0000c0002t0002g0134 a0000c0002t0002g0135 a0000c0002t0002g0136 a0000c0002t0002g0137 a0000c0002t0002g0138 a0000c0002t0002g0139 a0000c0002t0002g0140 a0000c0002t0002g0141 a0000c0002t0002g0142 a0000c0002t0002g0143 a0000c0002t0002g0144 a0000c0002t0002g0145 a0000c0002t0002g0146 a0000c0002t0002g0147 a0000c0002t0002g0148 a0000c0002t0002g0149 a0000c0002t0002g0150 a0000c0002t0003g0008 a0000c0002t0003g0018 a0000c0002t0003g0019 a0000c0002t0003g0020 a0000c0002t0003g0155 a0000c0002t0003g0158 a0000c0002t0003g0159 a0000c0002t0003g0160 a0000c0002t0003g0161 a0000c0002t0003g0162 a0000c0002t0003g0163 a0000c0002t0003g0164 a0000c0002t0003g0165 a0000c0002t0003g0166 a0000c0002t0003g0167 a0000c0002t0003g0168 a0000c0002t0003g0169 a0000c0002t0003g0170 a0000c0002t0003g0171 a0000c0002t0003g0172 a0000c0002t0003g0173 a0000c0002t0003g0174 a0000c0002t0003g0175 a0000c0002t0003g0177 a0000c0002t0003g0179 a0000c0002t0003g0180 a0000c0002t0003g0181 a0000c0002t0003g0182 a0000c0002t0003g0183 a0000c0002t0003g0185 a0000c0002t0003g0189 a0000c0002t0004g0023 a0000c0002t0004g0024 a0000c0002t0004g0025 a0000c0002t0004g0026 a0000c0002t0004g0197 a0000c0002t0004g0198 a0000c0002t0004g0208 a0000c0002t0004g0209 a0000c0002t0004g0210 a0000c0002t0004g0211 a0000c0002t0004g0212 a0000c0002t0004g0213 a0000c0002t0004g0214 a0000c0002t0004g0215 a0000c0002t0004g0216 a0000c0002t0004g0217 a0000c0002t0004g0218 a0000c0002t0004g0219 a0000c0002t0004g0220 a0000c0002t0004g0221 a0000c0002t0004g0222 a0000c0002t0004g0223 a0000c0002t0004g0224 a0000c0002t0004g0225 a0000c0002t0004g0226 a0000c0002t0004g0227 a0000c0002t0004g0228 a0000c0002t0004g0229 a0000c0002t0004g0230 a0000c0002t0004g0231 a0000c0002t0004g0232 a0000c0002t0004g0233 a0000c0002t0004g0234 a0000c0002t0004g0235 a0000c0002t0004g0236 a0000c0002t0004g0237 a0000c0002t0004g0238 a0000c0002t0004g0240 a0000c0002t0007g0027 a0000c0002t0007g0244 a0000c0002t0007g0245 a0000c0002t0007g0246 a0000c0002t0007g0247 a0000c0002t0008g0017 a0000c0002t0008g0153 a0000c0002t0008g0154 a0000c0002t0011g0038 a0000c0002t0011g0345 a0000c0002t0013g0047 a0000c0002t0014g0011 a0000c0002t0015g0199 a0000c0002t0015g0200 a0000c0002t0016g0241 a0000c0002t0016g0242 a0000c0002t0022g0086 a0000c0002t0023g0151 a0000c0002t0024g0152 a0000c0002t0025g0195 a0000c0002t0026g0196 a0000c0002t0027g0156 a0000c0002t0029g0344 a0000c0002t0030g0346 a0000c0004t0003g0176 a0000c0004t0003g0178 a0000c0004t0003g0186 a0000c0004t0003g0187 a0000c0004t0003g0188 a0000c0004t0003g0190 a0000c0004t0003g0191 a0000c0004t0003g0192 a0000c0004t0003g0194 a0000c0004t0013g0048 a0000c0004t0018g0039 a0000c0005t0004g0201 a0000c0005t0004g0202 a0000c0005t0004g0203 a0000c0005t0004g0204 a0000c0005t0004g0205 a0000c0005t0004g0206 a0000c0006t0003g0022 a0000c0006t0003g0184 a0000c0007t0003g0021 a0000c0009t0003g0157 a0000c0010t0003g0193 a0000c0013t0004g0239 a0001c0001t0005g0012 a0004c0012t0028g0207	214	423	0.5059	-301	c.345 others(17): Show c.345+1322_345+1622del		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	4/6						chr7	TogoVar
PPP2R3B_chrX_328933_391907	376519	GCAGGGAC others(294): Show GCAGGGACGGGCCGTCCACACCCAGTGGGGCCGCCATGGGGCTGTCTATA CACTACTGTATGCAGGGACGGGCCGTCCACACCCAGTGGGGCCGCCATGG GGCTGTCTATACACTACTGTATGCAGGGACGGGCCATCCACACCCAGTGG GGCCACCATGGGGCTGTCTATACACTACTGTGTACAGGGACGGGCCGTCC ACACCCAGTGGGGCCACCATGGGGCTGTCTATACACTACTGTGTACAGGG ACGGGCCGTCCACAGTGGGGCCGCCATGGGGCTGTCTATACACTACTGTA TA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18994.hp1 HG03471.hp1 NA18994.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0005 a0006c0010t0011 a0001c0001t0005 a0006c0010t0011	a0001c0001t0005g0003 a0006c0010t0011g0002 a0001c0001t0005g0003 a0006c0010t0011g0002	2	25	0.0800	-301	c.324 others(17): Show c.324+9548_324+9848del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
RRP12_chr10_97351701_97406340	97398052	TTTTTTTT others(294): Show TTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01109.hp2 others(14): Show HG00642.hp1 HG00733.hp1 HG01109.hp2 HG01167.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02155.hp2 HG02486.hp1 HG02896.hp1 NA18906.hp2 NA18963.hp1 NA18967.hp2 NA18982.hp1 NA19043.hp2 NA20129.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0007 a0001c0015 others(2): Show a0001c0006 a0001c0007 a0001c0015 a0001c0025 a0003c0002	a0001c0006t0001 a0001c0007t0001 a0001c0015t0001 others(2): Show a0001c0006t0001 a0001c0007t0001 a0001c0015t0001 a0001c0025t0001 a0003c0002t0001	a0001c0006t0001g0210 a0001c0006t0001g0218 a0001c0007t0001g0219 others(14): Show a0001c0006t0001g0210 a0001c0006t0001g0218 a0001c0007t0001g0219 a0001c0007t0001g0224 a0001c0015t0001g0345 a0001c0025t0001g0285 a0003c0002t0001g0280 a0003c0002t0001g0281 a0003c0002t0001g0282 a0003c0002t0001g0283 a0003c0002t0001g0284 a0003c0002t0001g0286 a0003c0002t0001g0287 a0003c0002t0001g0295 a0003c0002t0001g0296 a0003c0002t0001g0297 a0003c0002t0001g0316	17	400	0.0425	-301	c.369 others(17): Show c.369+1952_370-1752del		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33						chr10	TogoVar
RSKR_chr17_28602963_28619185	28603666	TGCTGCCT others(294): Show TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAA TCCATTTAACCCTGAGTGGACACAGCACATGTTTTAGAGAGCACAGGGTT GGGGGTAAGGTCATAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTT AGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCCCTCTACACAGA CACAGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTC TATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGCT GG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0066 a0001c0001t0019g0066	1	362	0.0028	-301	c.65 others(11): Show c.6511_*6811del		RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding					4296		chr17	TogoVar
SCYL2_chr12_100262177_100346715	100282181	TGCCTGGC others(294): Show TGCCTGGCTAATTTTTGTAATTTTTGTAGAGATGGTTTTTCGCCACATTG GCCAGACTGATTTTGAACTCCTGGTCTCAAGTGATCCTCCTGCCTCAGCC TCCCAAACCCCACAAACCCCACAAAACCCACTTTTAGTCTTTTTTTTTTT TTTTTTTTTTTTTGAGATGCAGTCTCACTCTGTCACCAAGGCTGGAGTGC TGTGGCGCAATCCTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGA TTCTTGGGCCTCAGCCTCCCAAGTAGCTGGGACTACGGGCACCTGCCACC AC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00673.hp1 others(20): Show HG00140.hp2 HG00280.hp1 HG00673.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01256.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02965.hp1 HG03486.hp1 HG03579.hp2 HG04228.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0010 others(1): Show a0001c0003 a0001c0007 a0001c0010 a0001c0016	a0001c0003t0002 a0001c0003t0010 a0001c0007t0002 others(4): Show a0001c0003t0002 a0001c0003t0010 a0001c0007t0002 a0001c0007t0013 a0001c0007t0014 a0001c0010t0002 a0001c0016t0012	a0001c0003t0002g0165 a0001c0003t0002g0170 a0001c0003t0002g0171 others(20): Show a0001c0003t0002g0165 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0185 a0001c0003t0010g0166 a0001c0003t0010g0167 a0001c0007t0002g0162 a0001c0007t0013g0168 a0001c0007t0014g0169 a0001c0010t0002g0163 a0001c0010t0002g0164 a0001c0016t0012g0174	23	220	0.1046	-301	c.-28 others(15): Show c.-28-743_-28-443del		SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC24A_chr5_134643785_134732909	134681057	TCATTGCA others(294): Show TCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAACAA ACAAAACAGAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTG GGAGGCTGAGGTGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCT GGCCAATGTAGTGAAACCCCATCTTTACTAAAAATATAAAAAAATTAGCT GGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAACCGAGATTGC AC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18981.hp2 NA18991.hp1 others(3): Show NA18946.hp1 NA18981.hp2 NA18991.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0001t0017 a0001c0007t0006 a0001c0001t0006 a0001c0001t0017 a0001c0007t0006	a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 others(3): Show a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0017g0024 a0001c0007t0006g0051	6	318	0.0189	-301	c.138 others(18): Show c.1382-1299_1382-999del		SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
SKA3_chr13_21148595_21181552	21175117	AGGCGCCC others(294): Show AGGCGCCCACTACTATGCCCAGCTAATTGTTTTGTATTTTTAGTAGAGAC GAGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGCG ATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGTGCCAC CGTGCACGGCCAAATCTTTTTTTCTTTTTGAGACGGACTCTTGCTCTGTC GCCGAGGCTGGAGTGCAGTGGCGGATCTCGGCTCACTGCAAGTTCCGCCT CCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTA CC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02572.hp1 HG02647.hp2 others(1): Show HG01074.hp1 HG02572.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 others(1): Show a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121	4	378	0.0106	-301	c.103 others(16): Show c.103+957_103+1257del		SKA3	ENSG00000165480.16	transcript	ENST00000314759.6	protein_coding	1/8						chr13	TogoVar
SKI_chr1_2223319_2315213	2281856	GGACGCCC others(294): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0128 a0001c0001t0079g0128	1	330	0.0030	-301	c.970 others(19): Show c.970-21120_970-20820del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282221	GGTGGCGG others(294): Show GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGA AGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG CA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 NA19043.hp2 others(1): Show HG02723.hp2 HG02976.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0011 a0001c0001t0016 a0001c0012t0011 a0001c0001t0011 a0001c0001t0016 a0001c0012t0011	a0001c0001t0011g0003 a0001c0001t0016g0267 a0001c0012t0011g0266 a0001c0001t0011g0003 a0001c0001t0016g0267 a0001c0012t0011g0266	4	330	0.0121	-301	c.970 others(19): Show c.970-20738_970-20438del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC2A14_chr12_7807514_7877915	7825249	CCAGGAGT others(294): Show CCAGGAGTTCAAGACCAGACTGGTCAACATGGTGAAAGCCCGTCTCTACT AAAAATACAAAATTAGCTGTGTGTGGTGTCGGCCGCCTGTAATTCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTAGAGGTT GCTATGAGCTGATATTGCGCTACTGCACTCTAGCCTGGGCGACAGAGCAA GACTACCTCTCAAAAAAAAAAAAAGAAAGAGCAAGCCAGGCGCGGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAA GT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01256.hp2 others(1): Show HG00642.hp1 HG01255.hp2 HG01256.hp2 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0302 others(1): Show a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0302 a0001c0002t0003g0337	4	350	0.0114	-301	c.864 others(17): Show c.864+1945_864+2245del		SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10						chr12	TogoVar
SLX9_chr21_44935029_44981973	44973358	ACCCCGCC others(294): Show ACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGC CCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCT CTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGG GATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAG CTCCTATGTGCCCTCGCCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGA GTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCT CG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	334	0.0030	-301	c.569 others(15): Show c.569+127_569+427del		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SPAG5_chr17_28572574_28604025	28603666	TGCTGCCT others(294): Show TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAA TCCATTTAACCCTGAGTGGACACAGCACATGTTTTAGAGAGCACAGGGTT GGGGGTAAGGTCATAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTT AGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCCCTCTACACAGA CACAGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTC TATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGCT GG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	330	0.0030	-301	c.-50 others(11): Show c.-5021_-4721del		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					4642		chr17	TogoVar
TCERG1L_chr10_131087391_131316721	131289493	CGCTGTGT others(294): Show CGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGTAT GTGTGCACCGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCA ATGTGAGTGTATGTGTGCACCGCTGTGTGTGAGGTGTGCACTGCCTCCAT CTCCTATCGGTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGTGAGGTGT GCACTGCCTCCATCTATCAATGTGAGTGTACGTGTGCACTGCTGTGTGTG AGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGAGTGTATGTGTGCA CT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp1 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0015 a0001c0001t0001g0056	2	324	0.0062	-301	c.670 others(19): Show c.670+18417_670+18717del		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	3/11						chr10	TogoVar
TDGF1P3_chrX_110515896_110528021	110524224	TCTGTTGA others(294): Show TCTGTTGATTCCTAGGGAAAATTAATAGTCTATAACATAAAGTTCCTTTA AAACTTGGATATGAAGTCTTTGTAGTGTTACCTTTTTTTAGCAGTGGAGT GAATAACATCAATATATCTAATTAATACCAATAGAGATTTTCCCCCATTT GACCAATTATAAAAATATCATTAATATTTTTCAGGATACATTGTGTTTGC ATAAGGGCTTTATTATAAAATCATTACTTTTTCCAGGAGGATATGTGAAC ATGAAAGAACTGTCAAGTAGTTCCAATGTTCCTCCAGACATGGGGTAGAT TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03471.hp1 others(1): Show HG02630.hp1 HG02886.hp1 HG03471.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	4	265	0.0151	-301	c.25 others(11): Show c.2529_*2829del		TDGF1P3	ENSG00000225366.6	transcript	ENST00000602699.2	protein_coding					1204		chrX	TogoVar
TEX29_chr13_111315642_111349248	111340390	AATCATAA others(294): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	416	0.0024	-301	c.239 others(15): Show c.239+501_239+801del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
THBS3_chr1_155190588_155212897	155191241	GCCGGCCT others(294): Show GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGT GGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG CGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGAC ATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAGG CCGAGGTGACACCGTAGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGG AA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	298	0.0034	-301	c.42 others(11): Show c.4299_*4599del		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					4346		chr1	TogoVar
UPF3A_chr13_114276601_114310817	114292336	ATGTTCAT others(294): Show ATGTTCATTTTCGGCTCAAGGCGTACACGTGCAGGTGTGTTACGTGTTCA TTTTCGGCTCAAGGCTTACACGTGCAGGTGTGCCACATGTTCATTTTCGG TTCAAGGCGTACACGTGCAGGTGTGTTACGTGTTCATTTTCGGCTCAAGG CGTACACGTGCAGGTGTGCCACATGTTTATTTTCGGTTCAAGGCGTACAC GTGCAGGTGTGTTACGTGTTCATTTTCGGCTCAAGGCGTACACGTGCAGG TGTGTTACGTGTTCATTTTCGGTTCAAGGCGTACACGTGCAGGTGTGTTA CG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0011 a0015c0017t0011	a0015c0017t0011g0361 a0015c0017t0011g0361	1	450	0.0022	-301	c.846 others(15): Show c.846+584_846+884del		UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr13	TogoVar
VPS36_chr13_52407606_52455634	52445634	GTCTCAAA others(294): Show GTCTCAAAAAAAAAAAAAAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCTAGGCGGGCGGATCACGAGGTCAGGAGATC AAGACCATCCTGACTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAAATAGCCGGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTG GGAGGCGGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGAAAGACTC TA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19082.hp1 HG03017.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0208 a0001c0001t0004g0209	2	338	0.0059	-301	c.97- others(15): Show c.97-3490_97-3190del		VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	1/13						chr13	TogoVar
ZFYVE28_chr4_2264597_2423645	2396430	GGGGTGTC others(294): Show GGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGACACAAGGT GGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAGG CGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGG CGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGG CGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAG GCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAG GC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0223 a0002c0003t0004g0223	1	290	0.0035	-301	c.39+ others(17): Show c.39+21554_39+21854del		ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12						chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393960	GGGCAGGT others(294): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0082 a0001c0001t0046g0082	1	346	0.0029	-301	c.181 others(21): Show c.1811-13958_1811-13658del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZSCAN5A_chr19_56216303_56319839	56282492	GCTGAAAG others(294): Show GCTGAAAGGTAAGCTTCTCATTCCATCTCTTTCCCTTTGGGGTCTGTTTG CCTTTGTCCAAAAGGGATCATTGCTGCTGAACTTCGACTTACGTTTCTTC TCTGGTCTGTTCACAGCTTAGCTTCTAATAGCGGAACTAGTAAAACCAAG TGTGGAATTGTCCTTTGATGAACAACAACAACAACAAAAGCCCTTTTACT TGTCTCCCCTCAAAGCCACTTGTCCAGAAACTGAGCACTCTTTCATGGTC CGCACATGGCTCAAGGAAAGCTATTAGGTCTGAGAGCTCAATTCAGGTCT AC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	362	0.0028	-301	c.-12 others(21): Show c.-128+30490_-128+30790del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(293): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCC C	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(37): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18989.hp2 NA18999.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19070.hp1 NA19074.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0013 a0001c0001 a0001c0003 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0003 a0002c0013t0001	a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0001t0001g0159 others(36): Show a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0162 a0001c0001t0002g0190 a0001c0001t0002g0236 a0001c0001t0003g0100 a0001c0001t0003g0109 a0001c0001t0003g0119 a0001c0001t0003g0163 a0001c0001t0004g0283 a0001c0001t0005g0001 a0001c0001t0005g0015 a0001c0001t0005g0024 a0001c0001t0005g0030 a0001c0001t0005g0066 a0001c0001t0006g0012 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0003t0003g0259 a0002c0013t0001g0099	40	354	0.1130	-300	c.735 others(15): Show c.735-834_735-535del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1236344	CACTCCCC others(293): Show CACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACC CAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCT GTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTC TGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCG GTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT T	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	106	0.0094	-300	c.136 others(19): Show c.1362-2799_1362-2500del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
AGAP1_chr2_235489043_236136793	235525876	TACATAAT others(293): Show TACATAATGTGGAGGACTGATACATAATGTGGAGGACTGATTTATAAAGT AGAGGACTGATTTATAAAGTAGAGGACTGACACATAATGTGGAGGACTGA TTTATAAAGTAGAGGACTGATGCATAATGTGGAGGACTGATACATAATGT GGAGGACTGATACATAATGTGGAGGACTGATACATAATGTGGAGGACTGA TTTATAAAGTAGAGGACTGATTTATAAAGTAGAGGACTGACACATAATGT GGAGGACTGATTTATAAAGTAGAGGACTGATTTATAAAGTAGAGGACTGA C	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03098.hp1 others(2): Show HG02717.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014	a0001c0001t0007 a0001c0002t0014 a0001c0002t0038 others(2): Show a0001c0001t0007 a0001c0002t0014 a0001c0002t0038 a0001c0003t0020 a0001c0014t0016	a0001c0001t0007g0008 a0001c0002t0014g0052 a0001c0002t0038g0086 others(2): Show a0001c0001t0007g0008 a0001c0002t0014g0052 a0001c0002t0038g0086 a0001c0003t0020g0053 a0001c0014t0016g0048	5	98	0.0510	-300	c.163 others(19): Show c.163+31048_163+31347del		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
AGO2_chr8_140515156_140640633	140622984	GGGGTCTC others(293): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGTAATAATCCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT A	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00639.hp1 others(79): Show HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02602.hp1 HG03098.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18983.hp2 NA18985.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0015 a0001c0016 a0001c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(44): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0086 a0001c0001t0105 a0001c0001t0107 a0001c0001t0111 a0001c0001t0113 a0001c0001t0117 a0001c0001t0121 a0001c0001t0122 a0001c0001t0139 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0025 a0001c0002t0041 a0001c0002t0045 a0001c0002t0084 a0001c0002t0124 a0001c0003t0001 a0001c0003t0008 a0001c0003t0010 a0001c0003t0018 a0001c0003t0033 a0001c0003t0054 a0001c0004t0004 a0001c0004t0005 a0001c0004t0143 a0001c0005t0019 a0001c0006t0027 a0001c0006t0046 a0001c0006t0129 a0001c0006t0130 a0001c0006t0138 a0001c0008t0003 a0001c0012t0103 a0001c0015t0001 a0001c0016t0109 a0001c0021t0028	a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0001t0001g0126 others(79): Show a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0286 a0001c0001t0003g0117 a0001c0001t0003g0227 a0001c0001t0003g0269 a0001c0001t0005g0136 a0001c0001t0023g0002 a0001c0001t0023g0303 a0001c0001t0023g0304 a0001c0001t0036g0147 a0001c0001t0036g0149 a0001c0001t0038g0113 a0001c0001t0039g0259 a0001c0001t0076g0123 a0001c0001t0079g0110 a0001c0001t0080g0225 a0001c0001t0086g0261 a0001c0001t0105g0055 a0001c0001t0107g0124 a0001c0001t0111g0028 a0001c0001t0113g0128 a0001c0001t0117g0111 a0001c0001t0121g0120 a0001c0001t0122g0134 a0001c0001t0139g0146 a0001c0002t0002g0148 a0001c0002t0002g0203 a0001c0002t0002g0206 a0001c0002t0002g0217 a0001c0002t0002g0242 a0001c0002t0002g0245 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0002g0308 a0001c0002t0002g0314 a0001c0002t0003g0215 a0001c0002t0004g0151 a0001c0002t0004g0240 a0001c0002t0004g0250 a0001c0002t0004g0262 a0001c0002t0004g0317 a0001c0002t0025g0228 a0001c0002t0025g0230 a0001c0002t0041g0216 a0001c0002t0045g0199 a0001c0002t0084g0222 a0001c0002t0124g0200 a0001c0003t0001g0135 a0001c0003t0008g0109 a0001c0003t0008g0237 a0001c0003t0008g0248 a0001c0003t0010g0243 a0001c0003t0010g0309 a0001c0003t0018g0137 a0001c0003t0018g0312 a0001c0003t0033g0070 a0001c0003t0054g0293 a0001c0004t0004g0219 a0001c0004t0004g0255 a0001c0004t0005g0138 a0001c0004t0143g0338 a0001c0005t0019g0221 a0001c0006t0027g0202 a0001c0006t0027g0232 a0001c0006t0027g0251 a0001c0006t0046g0127 a0001c0006t0046g0266 a0001c0006t0129g0220 a0001c0006t0130g0298 a0001c0006t0138g0233 a0001c0008t0003g0254 a0001c0012t0103g0213 a0001c0015t0001g0025 a0001c0016t0109g0131 a0001c0021t0028g0273	82	338	0.2426	-300	c.22+ others(17): Show c.22+12201_22+12500del		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
ANKRD11_chr16_89262630_89495561	89421415	CGGGGGTG others(293): Show CGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGTGGGGCTGAGACACGAAGGGTCGGT GTGTGGTGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGG CGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGCGGGGGTGAGACACGAAGGGTCGGT GTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCACGTCTGGGGG T	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0270 a0001c0024t0001g0270	1	310	0.0032	-300	c.-14 others(19): Show c.-144-3347_-144-3048del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
ASCC1_chr10_72091032_72221276	72206067	CCACTCCA others(293): Show CCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAACAAAAAAA AAAAGAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCTGTGCTTTGGAA GGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTGGAAACCAGCCTAAC CAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCGGGCAT GGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAA TCTCTTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATT G	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	216	0.0046	-300	c.213 others(17): Show c.213-2843_213-2544del		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	3/9						chr10	TogoVar
BOP1_chr8_144257045_144296438	144281089	CTTTAATA others(293): Show CTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTCTTAGG CCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACC AGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACC AGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCA G	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01106.hp2 others(21): Show HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02027.hp2 HG02738.hp2 HG03017.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04184.hp2 NA20300.hp2 NA20905.hp1	a0001 a0008 a0016 a0001 a0008 a0016	a0001c0001 a0001c0025 a0008c0029 others(1): Show a0001c0001 a0001c0025 a0008c0029 a0016c0022	a0001c0001t0001 a0001c0025t0001 a0008c0029t0001 others(1): Show a0001c0001t0001 a0001c0025t0001 a0008c0029t0001 a0016c0022t0001	a0001c0001t0001g0020 a0001c0001t0001g0189 a0001c0001t0001g0190 others(20): Show a0001c0001t0001g0020 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0001t0001g0365 a0001c0025t0001g0360 a0008c0029t0001g0204 a0016c0022t0001g0316	24	398	0.0603	-300	c.310 others(17): Show c.310-5085_310-4786del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281136	AGGCCTTC others(293): Show AGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTT CGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTT T	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02257.hp1 HG02572.hp1 others(7): Show HG01993.hp2 HG02257.hp1 HG02572.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03516.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0234 a0001c0001t0001g0310 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0234 a0001c0001t0001g0310 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0369 a0001c0002t0001g0042	10	398	0.0251	-300	c.310 others(17): Show c.310-5132_310-4833del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281174	CCTCACTT others(293): Show CCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTC TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTC T	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	398	0.0025	-300	c.310 others(17): Show c.310-5170_310-4871del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar

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Search Results (Total: 10000 hits)