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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
EHMT1_chr9_137614005_137841127	137818909	ACCGAGAC others(754): Show ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGA GGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGG GGGCGCCGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	170	0.0059	-761	c.354 others(18): Show c.3540+779_3540+1539del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
LMF1_chr16_848634_975984	950033	CGACAGAG others(754): Show CGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGAC AACGACAGAGTCAGAGCCAACGACAGAGTCAGAGACGAAAGACTCAGAGC CAATGACAGAGTCAGAGCCAATGACAGAGTCAGCCAACGACAGAGTCAGA GCCAACGACAGAGTCAGCCAATGACAGAGTCAGAGACAGCGACAGAGTTA GAGACAATGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCA GAGACAATGACAAAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGT CAGCCAACAACAGTCAGCCAACGACAGAGTCAGGCCAACGACAGAGTCAG CCAATGACAGAGTCAGAGCCAACGACAGAGTCAGAGACAACGACAGAGTT AGAGACAACGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTC AGAGCCAACGACAGAGTCAGAGATGACAGAGTCAGAGACGACAGAGTCAG AGCCAATGACAGAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGTC AGCCAATGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGAG TCAGCCAAGGACAGAGTCAGCCAACGACAGAATCAGAGACAATGACAGAG TCAGCCAACGACAGAGTCAGAGCCAATGACAGAGTCAGAGCCAACGACAG AGTCAGAGACGACAGAGTCAGAGCCAACGACAGAGTCAGAGCCAACGACA GAGTCAGCCAAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01993.hp1 HG02148.hp2 others(5): Show HG01123.hp2 HG01993.hp1 HG02148.hp2 HG02280.hp2 NA18946.hp2 NA18948.hp2 NA18967.hp1 NA18982.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0002 a0001c0013 a0002c0017 others(1): Show a0001c0002 a0001c0013 a0002c0017 a0022c0042	a0001c0002t0001 a0001c0013t0001 a0002c0017t0001 others(1): Show a0001c0002t0001 a0001c0013t0001 a0002c0017t0001 a0022c0042t0001	a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 others(5): Show a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0013t0001g0045 a0001c0013t0001g0046 a0002c0017t0001g0038 a0022c0042t0001g0084	8	294	0.0272	-761	c.503 others(17): Show c.503+3563_503+4323del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	950044	GAGCCAAC others(754): Show GAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGACAACGACAGAGT CAGAGCCAACGACAGAGTCAGAGACGAAAGACTCAGAGCCAATGACAGAG TCAGAGCCAATGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAG AGTCAGCCAATGACAGAGTCAGAGACAGCGACAGAGTTAGAGACAATGAC AGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGACAATGAC AAAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGTCAGCCAACAAC AGTCAGCCAACGACAGAGTCAGGCCAACGACAGAGTCAGCCAATGACAGA GTCAGAGCCAACGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGA CAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGA CAGAGTCAGAGATGACAGAGTCAGAGACGACAGAGTCAGAGCCAATGACA GAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGTCAGCCAATGACA GAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGAGTCAGCCAAGGA CAGAGTCAGCCAACGACAGAATCAGAGACAATGACAGAGTCAGCCAACGA CAGAGTCAGAGCCAATGACAGAGTCAGAGCCAACGACAGAGTCAGAGACG ACAGAGTCAGAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAA TGACAGAGTCAG	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	294	0.0034	-761	c.503 others(17): Show c.503+3552_503+4312del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
ME3_chr11_86436108_86677616	86574919	GTATCTGC others(754): Show GTATCTGCAAATTCCAAGGATGTTCACTCCATTTTCTGTGAACACTGGCA GCTTGCAACCCTGACAGGTTGTCCAGCCTGGGCAGGGGCCAACTTGTTCT CAGATGCAGCAAGGTGTGGGTGTGGACACAGCCTGCTTTCAGTGTATGGG AAGCAGTCATAGTAAAAAAGGCATCACTCTCTGCCCTTGAAACATATCTC AAGGTCTTCATACAGCTTCTAACATTTTTAAAATGTGCTTCTAATAACTG TTGTGCCAATGCATTAAACAGCCATTGGAGACAAAACCCTTTGGAAAATG TGCTCCAGGGTGAACTCCTCATGCTTGCTGTCACCTCCACCCCACGTAAG CTTCTGGTTCCAAGTTACTAGGATAAATGCGGCAAAGATGTAGAGGGTCC ACTTTAGCTAATGTTCTTACCCTCTTGTCACATTACGAAAGGGAGTTATT TCTCTAGACCTTGGTTTTACCTGTCTGGGAAATGGGAATAATATGTACCT CATCTACTTTACAGAGATGTAGGTGATTCAGCAAAGATAATGTGCAAGGA AATGATTTGGAATATAAATATTAAAGTTATTAACAATGATAGGAATAACT AATGTAGCATCATTGGCCCCTTTCTCTGAGATAAGAATAAACTTGGGACT GTTGGCAATCATTTCTGAGAGGACTTGGTTGCCTTTTAGAGGAGACAGAG ATGAAGTGGATGACGTGCTCCCCCCCAGGTTGGGTGCAGTGACTCACACT CCCTCAGAGCTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00741.hp1 others(35): Show HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(6): Show a0001c0001 a0001c0006 a0001c0009 a0001c0014 a0001c0022 a0002c0004 a0002c0007 a0002c0008 a0002c0018	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0009t0001 a0001c0014t0001 a0001c0022t0001 a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0008t0001 a0002c0018t0004	a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0001t0001g0175 others(35): Show a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0006t0001g0048 a0001c0006t0001g0049 a0001c0006t0001g0051 a0001c0006t0001g0052 a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 a0001c0009t0001g0202 a0001c0009t0001g0203 a0001c0009t0001g0204 a0001c0014t0001g0053 a0001c0014t0001g0121 a0001c0022t0001g0205 a0002c0004t0001g0055 a0002c0004t0003g0208 a0002c0004t0003g0209 a0002c0007t0001g0010 a0002c0007t0001g0011 a0002c0007t0001g0013 a0002c0007t0001g0044 a0002c0007t0001g0045 a0002c0007t0001g0111 a0002c0007t0001g0174 a0002c0007t0001g0176 a0002c0007t0001g0180 a0002c0008t0001g0054 a0002c0018t0004g0284	38	320	0.1188	-761	c.184 others(19): Show c.184-15857_184-15097del	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
PPP1R12C_chr19_55085918_55122637	55093422	CCAGCCCC others(754): Show CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTC AGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCC AGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCC CTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGACCT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02818.hp1 HG02004.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0178 a0001c0005t0001g0179 a0001c0001t0001g0178 a0001c0005t0001g0179	2	390	0.0051	-761	c.168 others(17): Show c.1683+162_1684-190del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
RASA3_chr13_113972783_114137623	114006514	TCCCCCCT others(754): Show TCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTG CCCTGCTGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATG CCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTC TCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCC CTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCC ACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTC CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCT GCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCA CTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTG GACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTA CCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCT CCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCG GACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCC TGCCCTGCCGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02280.hp2 others(3): Show HG00639.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02738.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041	6	67	0.0896	-761	c.174 others(18): Show c.1742+258_1742+1018del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
TNFRSF11B_chr8_118918557_118956885	118920522	ACGGTGGC others(754): Show ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCA AATCATGAGGTCGGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCC CGTCTCTACTAAAATACAAAAAATTAGCCGGGTGTGGTGGCACATGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGTTTGAACCTGGC AGGCGGAGGTGGCAGTGAGCCAAGATCATGCCACTGCATTCACTCTAGCC TGGTGACAGAGCAAGACTCCATCTCAATTAAAAAAAAAAAAAAAGGACTG GCATGATATTTTCAAATTTTATCTCCCTTGGAAGAGAAGTTCAAAGTAAA CAGAACCCAAAGGAGCAGCCAGGGAGACCAATCAAATAAGCATTTGAATA ATTTAGCCTTGATGACATGAACTTTCAAACTTTTCTTAAACTTTGCAGAG TTGTGTAGGCCATTTCATTTTCTAGAAAGAACTTTGAGGGAATAACTGGA GCTGCTGAAGGGAAAATGAAGCCTATTAGTTAACTCTTGGCCACTTTTGT CATGTCCAGTATTGCAACATTGGGAGGCCTGTTACCCAGGTTAGAGCCTC TTCACTTTCACTTTCACTTTTAATTTTTCCAGGTTTATGAGTCTGTGTGA TATTTACCTAGATGTACTCTTCTATCAAGGTGGCCATAACTCATCTAATT TCACAAATCTGCTTTCACAGGGATGGTCTATGTCAACTCTAAATTCTAAG TCAGGCCGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02257.hp1 others(12): Show HG01167.hp2 HG01884.hp2 HG02257.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03540.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178	15	428	0.0351	-761	c.30 others(11): Show c.3091_*3851del	TNFRSF11B	ENSG00000164761.9	transcript	ENST00000297350.9	protein_coding		3034		chr8	TogoVar
ZNF516_chr18_76352682_76500242	76392959	CAGGTGGT others(754): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0325 a0001c0001t0147g0325	1	346	0.0029	-761	c.181 others(21): Show c.1811-13417_1811-12657del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
EHMT1_chr9_137614005_137841127	137818537	TGTAGAGA others(753): Show TGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCG AGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGA GGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGG GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	170	0.0059	-760	c.354 others(18): Show c.3540+451_3540+1210del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXOC2_chr6_480154_698139	601195	TCCCCTTG others(753): Show TCCCCTTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTA CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG03130.hp1 others(1): Show HG02451.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0010 a0001c0003 a0001c0004 a0001c0010	a0001c0003t0003 a0001c0004t0003 a0001c0010t0002 a0001c0003t0003 a0001c0004t0003 a0001c0010t0002	a0001c0003t0003g0223 a0001c0004t0003g0116 a0001c0010t0002g0264 others(1): Show a0001c0003t0003g0223 a0001c0004t0003g0116 a0001c0010t0002g0264 a0001c0010t0002g0265	4	272	0.0147	-760	c.743 others(17): Show c.743-2730_743-1971del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
LPP_chr3_188149157_188895671	188784731	TATATATA others(753): Show TATATATATTCCATCATATATATATTCCATCATATATATATATTCCATCA TATATATATATTCCATCATATATATATATTCCATCATATATATATATTCC ATCATATATATATATTCCATCATATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATATTCCATCATATATATATATTCCATCATATATATATTCCATCA TCATATATATATTCCATCATATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATTCCATCATAT ATATATATTCCATCATATATATATATTCCATCATATATATATATTCCATC ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATAT TCCATCATATATATATATTCCATCATATATATATATTCCATCATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCATC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp2 HG03540.hp1 others(1): Show HG00639.hp1 HG02896.hp2 HG03540.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0007 a0002c0003 a0002c0004 a0002c0007	a0002c0003t0022 a0002c0003t0028 a0002c0004t0045 others(1): Show a0002c0003t0022 a0002c0003t0028 a0002c0004t0045 a0002c0007t0002	a0002c0003t0022g0054 a0002c0003t0028g0061 a0002c0004t0045g0026 others(1): Show a0002c0003t0022g0054 a0002c0003t0028g0061 a0002c0004t0045g0026 a0002c0007t0002g0073	4	76	0.0526	-760	c.141 others(21): Show c.1410+24458_1410+25217del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAD1L1_chr7_1810795_2237945	1904308	CGGAACTC others(753): Show CGGAACTCATGATTGATGAAGCACTGCTCCAGGCAGCAAGGATGCAGTGG CCTATGGAAGACGCTCTTGCAGAATTCATGATTGATGAAGCACTGTTCCA GGCAGTGAGGACACAGTGGCCTATGAAAGATGCTCTTGCGGAACTCATAA TTGATCAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTATGGAAGAT GCTCTTGCGGAACTCATGATTGATCAAGCACTGTTCCAGGCAGCGAGGAC GCAGTGGCCTACGGAAGACGCTCTTGCAGAATTCATGATTAATGAAGCAT TGTTCCAGGCAGCGAGGATGCAGTGGCCTATGGAAGACGCTCTTGCGGAA TTCATGATTAATGAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTAT GGAAGACGCTCTTGCGGAACTCATGATTGATCAATCACTGTTCCAGGCAG CAAGCACGCAGTGGCCTATTGAAGACGCTCCTGCGGAACTCATGATTGAT CAAGCACTGTTCCAGGCAAGCGAGGACGCAGTGGCCTATGGAAGACGCTC TTGCAGAACTCATGATTGATGAAGCACTGTTCCAGGCAGCAAGGATGCAG TCGCCTATGGAAGACGTTCTTGTGGAACTCATGATTGATGAAGCACTATT CCAGGCAGCAAGGACACAGTGGCCTACGGAAGACGCTCTTGAGGAACTCA TGATTGATAAAGCACTGTTCCAGGCAGCAAGGATGCAGTGGCCTATGGAA GACGTTCTTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(24): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01255.hp2 HG01515.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG04228.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18963.hp1 NA18969.hp2 NA18981.hp1 NA18985.hp2 NA18990.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0001c0011t0001 a0004c0008t0001	a0001c0001t0001g0090 a0001c0001t0001g0169 a0001c0001t0001g0181 others(24): Show a0001c0001t0001g0090 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0006t0001g0237 a0001c0007t0004g0078 a0001c0007t0004g0079 a0001c0007t0004g0080 a0001c0011t0001g0244 a0004c0008t0001g0194	27	264	0.1023	-760	c.180 others(19): Show c.1808-6678_1808-5919del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
ROR2_chr9_91717601_91955228	91797328	ATCTGTGG others(753): Show ATCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGACACCC TGGGATCTGTGGATAGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGAC ACCCTGGGCTCTGTGGGTGGGGAATGACACACTGGGCTCTGTGGGCGAGG CTGACACCCTGGGCTAGTGGGTGGAGTTGACACCATGGGGTCTGTTAGTG GGGAATGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGCATTCTGT GGGCGGGGCTGACACCCTAGGCTCTGTGGGTGGGGAATGACACCCTGGGA TCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCT GGGATCTGTGGATAGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGACA CCCTGGGCTCTGTGGGCGGGGCTGACACCCTGGGATCTGTGGATAGGGCT GACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGG GGAATGACACACTGGGCTTTGTGGGAGAGGCTGACACCCTGGGCTAGTGG GTAGAGTTGACACCATGGGGTCTGTTAGTGGGGAATGACACCCTGGGCTC TGTGGGTGGGGCTGACACCCTGCATTCTGTGGGCAGGGCTGACACCCTGG GCTCTGTGGGTGGGGAATGACACCCTGGGATCTGTGGGTGGGGCTGACAC CCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGATCTGTGGATAGGGCTG ACACCCTGGGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(58): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01109.hp2 HG01169.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA19012.hp1 NA19056.hp2 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA19089.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014	a0001c0001 a0001c0005 a0001c0009 others(15): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0035 a0001c0042 a0002c0004 a0002c0006 a0002c0007 a0002c0013 a0003c0003 a0004c0002 a0005c0021 a0006c0011 a0007c0012 a0009c0016 a0010c0038 a0014c0031	a0001c0001t0001 a0001c0001t0007 a0001c0005t0003 others(19): Show a0001c0001t0001 a0001c0001t0007 a0001c0005t0003 a0001c0005t0009 a0001c0009t0010 a0001c0010t0004 a0001c0035t0003 a0001c0042t0015 a0002c0004t0003 a0002c0004t0012 a0002c0006t0004 a0002c0007t0001 a0002c0013t0003 a0003c0003t0002 a0004c0002t0002 a0004c0002t0008 a0005c0021t0005 a0006c0011t0001 a0007c0012t0003 a0009c0016t0007 a0010c0038t0004 a0014c0031t0004	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 others(58): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0007g0007 a0001c0005t0003g0018 a0001c0005t0003g0102 a0001c0005t0003g0148 a0001c0005t0003g0155 a0001c0005t0003g0171 a0001c0005t0003g0217 a0001c0005t0009g0099 a0001c0009t0010g0008 a0001c0010t0004g0109 a0001c0035t0003g0204 a0001c0042t0015g0225 a0002c0004t0003g0072 a0002c0004t0003g0074 a0002c0004t0003g0112 a0002c0004t0003g0161 a0002c0004t0012g0114 a0002c0006t0004g0026 a0002c0006t0004g0037 a0002c0006t0004g0047 a0002c0006t0004g0055 a0002c0006t0004g0075 a0002c0006t0004g0086 a0002c0006t0004g0113 a0002c0006t0004g0124 a0002c0006t0004g0181 a0002c0007t0001g0009 a0002c0007t0001g0012 a0002c0013t0003g0058 a0002c0013t0003g0105 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0172 a0003c0003t0002g0173 a0004c0002t0002g0057 a0004c0002t0002g0125 a0004c0002t0008g0203 a0005c0021t0005g0002 a0006c0011t0001g0205 a0006c0011t0001g0209 a0006c0011t0001g0222 a0007c0012t0003g0163 a0007c0012t0003g0164 a0009c0016t0007g0116 a0009c0016t0007g0121 a0010c0038t0004g0096 a0014c0031t0004g0122	61	226	0.2699	-760	c.98- others(17): Show c.98-22270_98-21511del	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
WDR33_chr2_127696027_127816171	127787667	ACCCCCCC others(753): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGTTGGCTGGCCGGGCGGGG GGGCTGACACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCAGGCAGGGGGCTGACCCCCCCCACCTCCCTC CCGGACAGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCTCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGAGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp2 NA18906.hp2 HG02258.hp1 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0010g0014 a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0010g0014	3	318	0.0094	-760	c.-23 others(19): Show c.-23-17423_-23-16664del	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
CFAP46_chr10_132803392_132947570	132914022	CCCCCGCC others(752): Show CCCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCG GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	246	0.0041	-759	c.212 others(18): Show c.2121-1523_2121-765del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
GALNT9_chr12_132191372_132334589	132223361	ACNNNNNN others(752): Show ACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNN	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 HG03139.hp2 others(1): Show HG02895.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0026 others(1): Show a0001c0001 a0001c0002 a0001c0026 a0005c0023	a0001c0001t0001 a0001c0002t0005 a0001c0026t0014 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0026t0014 a0005c0023t0005	a0001c0001t0001g0149 a0001c0002t0005g0066 a0001c0026t0014g0052 others(1): Show a0001c0001t0001g0149 a0001c0002t0005g0066 a0001c0026t0014g0052 a0005c0023t0005g0028	4	183	0.0219	-759	c.107 others(21): Show c.1078-20430_1078-19672del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
ACKR2_chr3_42804445_42872286	42851733	GCTGGGGG others(751): Show GCTGGGGGAGCTCAGGCATTCCTTTCCATCTCTGGGCCTCAGTGTTCCCG GCTGTAAGATAATGGGGCAGATGAGATGGTCTTTAAGGGCCTCTCTCCCA GGGCCAAAGTTTCACAGCTCTGTGGTCTCTTCTTTTGCACATGTCCACCC TCTCCCCATCCTGCTCCTTTCCCAAATTCTTGGCCCCCTTCCTTCTGCCC AAAACAGTTCCAGATTCAAATAGTCCCTGGATCTCCTCCCATGCATCCCA GCCTGAATCAAATGTCATTTAATCAGCGAGTTTATTCATTTTAGGGGCTG GAAGAGAACCAATAGTATATGCCAGGCCCTTAGTTTACCATAATAACCCT GCAAGGGAGGCAGATTATAGGTGAGAAAGCTAAGTATCAGAGAGGTTAAA TAATGAGCTCGGAGTTGCACAGCCATTAAGAAGTGAGTTAAGCTATATTC TGTCTGTTCTACCCTGCCTATTCTGTCTATTCTACCATGCTGAGTGTCCT GCCTTTCCTGGGGATAGTGGGGTTTCATTTTCATGCTGAAATACACACGC AAGGAGTTCTCATGGGAACATTACAGGCAACAAGTACAGAGGCAAAAAAC AAAACATCAAAAAACATTCTGGGAAAGACATGAAAGTCTCACCTTCTGCA GCAGCAGCTCCTTGAAGGGTCGGGCTCTGAAAGTGCTTACTTTTTGTTAG CTGAAATAAGTTTTGGGAGGAGGGTTACTCTTGTGATTTTATATATGTCA CAAACATCT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	342	0.0029	-758	c.-37 others(19): Show c.-37-12730_-37-11973del	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ADARB2_chr10_1172313_1742525	1238183	CCCTGCAT others(751): Show CCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTC ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCT GGCGATACT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	106	0.0094	-758	c.136 others(19): Show c.1361+3190_1361+3947del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
FAM210A_chr18_13658347_13731558	13674006	ATTTCCAG others(751): Show ATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTT CCAGTTTCCTGATTATTATAATTCCTGAGCCCTGGCTTCTTTATTTCCAG TTTCCTGATTATTAACATTCCTGAGCCCAGGCTTCTTTATTTCCAGTTTC CTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCCTGA TTATTAACATTCCTGAGCCCCGACTTTATTTCCAGTTTCCTGATTATTAA CATTCCTGAGCCCTAGCTTCTTGATTTCCAGTTTCCTGATTATTAACATT CCTGAGCCCCGACTTTATTTCCAGTTTTCTGATTATTAACATTCCTGAGC CCTAGCTTCTTGATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCG ACTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTT GATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTTATTTCC AGTTTTCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTT TCCTGATTATTAACATTCCTGAGCCCCGACTTTATTTCCAGTTTCCTGAT TATTAACATTCCTGAGCCCTAGCTTCTTGATTTCCAGTTTCCTGATTATT AACATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTC CTGAGCCCTAGCTTCTTGATTTCCAGTTTCCTGATTATTAACATTCCTGA GCCCCGACT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0139 a0001c0001t0023g0139	1	326	0.0031	-758	c.474 others(17): Show c.474-2791_474-2034del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
GALNT13_chr2_153866922_154458979	154007242	ACAGGGAC others(751): Show ACAGGGACTTCATTCCTACACCTGAAAGGATTGAATTTGTCACCAATCGT GTGAGCTCAAAAGATAATTCTAAACTCCAGAAAGGAGCAAGGCCTGGCCA ACACCTTGATTTTGGTTTTGTGAGCCCCTGAGCTGATGGCATTGATAAAC TGCCCAAATGCCTTACCCATAGAAACTGTGGGAACCTTAAATGGGAAAAT GAAAGGTTGCGATTATTCTGTATAGTTCCTTTCATTTCTAAACATTATGT TTTCAAGTTGTGTTAGTATTATATTCTGAATTGAGTTTGTTAGAATTGAT TCCATATGAGGAATATGTTGTTTATTCATCAAGAAGGAATTTATATACTT AGGAAAAGGCCTAGAAATATGTTCACCAAACTCTCAAAAATTGATATTAT AGTTACATTACATACCTATGTTAGAGTATAGGATAAAGAGGCGATGGTTG GGAGATAGAGAAGGGAATGCTAACATTTTGTTTATGCACTTCTATACTTT AGATTTTTTGTATAGAAGGAGCATTGTTTACTCTTTACTGTTTTTACACC TGAATATCAACTTTAAGACAGCAATACAACACATCAGGGACAAAATTGTT TCCATATATAGTCTTAGGTTGTCTATTACCAACTATGGCCTAATCTAGAC TTGATGACACATTAGGAAATCTATCTTGTATTCAACGCAAAGATAGAACC CTTCATATTTCCACTCCTATTCCATCCCTACCCCTCCGTCAGTGCCCCCC AACTATTCT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	214	0.0047	-758	c.142 others(19): Show c.142+62606_142+63363del	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP13A3_chr3_194397677_194492002	194400434	TTAAGACT others(750): Show TTAAGACTTCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCGGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCC ATCCGGGAGGTGGGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCTAGCGGC TCATTGGGGATGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGG CGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTG TGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAA AATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCT GTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGG GCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCG TTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACAC TGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTC ACTTGTTTATCTGCTGACCTTCCCTCCACTGTTGTCCTATGACCCTGCCA AATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAA AAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0007 a0001c0001t0041g0007	1	304	0.0033	-757	c.47 others(11): Show c.4728_*5484del	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding		2242		chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194400435	TAAGACTT others(750): Show TAAGACTTCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCGGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCA TCCGGGAGGTGGGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCTAGCGGCT CATTGGGGATGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGC GGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGT GGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAA ATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTG TGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGG CGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGT TAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACT GCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCA CTTGTTTATCTGCTGACCTTCCCTCCACTGTTGTCCTATGACCCTGCCAA ATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAA AAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00621.hp1 others(140): Show HG00099.hp2 HG00558.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18990.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0020 a0001c0004t0006 a0001c0005t0002	a0001c0001t0002g0134 a0001c0001t0002g0181 a0001c0001t0002g0190 others(140): Show a0001c0001t0002g0134 a0001c0001t0002g0181 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0003g0110 a0001c0001t0004g0006 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0179 a0001c0001t0005g0043 a0001c0001t0005g0047 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0180 a0001c0001t0005g0226 a0001c0001t0005g0231 a0001c0001t0005g0242 a0001c0001t0006g0267 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0010g0262 a0001c0001t0011g0286 a0001c0001t0011g0295 a0001c0001t0011g0296 a0001c0001t0011g0297 a0001c0001t0011g0300 a0001c0001t0012g0034 a0001c0001t0012g0037 a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0015g0281 a0001c0001t0015g0282 a0001c0001t0015g0283 a0001c0001t0015g0285 a0001c0001t0018g0038 a0001c0001t0018g0039 a0001c0001t0018g0042 a0001c0001t0019g0292 a0001c0001t0021g0172 a0001c0001t0021g0178 a0001c0001t0025g0272 a0001c0001t0025g0274 a0001c0001t0026g0294 a0001c0001t0026g0298 a0001c0001t0029g0009 a0001c0001t0030g0022 a0001c0001t0037g0041 a0001c0001t0038g0045 a0001c0001t0039g0040 a0001c0001t0045g0266 a0001c0001t0046g0268 a0001c0001t0047g0284 a0001c0001t0049g0299 a0001c0001t0050g0301 a0001c0002t0020g0002 a0001c0002t0020g0003 a0001c0004t0006g0273 a0001c0004t0006g0279 a0001c0005t0002g0223	143	304	0.4704	-757	c.47 others(11): Show c.4727_*5483del	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding		2241		chr3	TogoVar
EHMT1_chr9_137614005_137841127	137818671	GGCGCCGT others(750): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGA GAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA GGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT TAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	170	0.0059	-757	c.354 others(18): Show c.3540+535_3540+1291del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
GP5_chr3_194389821_194404266	194400434	TTAAGACT others(750): Show TTAAGACTTCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCGGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCC ATCCGGGAGGTGGGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCTAGCGGC TCATTGGGGATGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGG CGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTG TGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAA AATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCT GTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGG GCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCG TTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACAC TGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTC ACTTGTTTATCTGCTGACCTTCCCTCCACTGTTGTCCTATGACCCTGCCA AATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAA AAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG02109.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0021 a0001c0004t0009g0021	2	384	0.0052	-757	c.-19 others(11): Show c.-1956_-1200del	GP5	ENSG00000178732.6	transcript	ENST00000692618.1	protein_coding		1169		chr3	TogoVar
GP5_chr3_194389821_194404266	194400435	TAAGACTT others(750): Show TAAGACTTCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCGGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCA TCCGGGAGGTGGGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCTAGCGGCT CATTGGGGATGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGC GGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGT GGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAA ATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTG TGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGG CGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGT TAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACT GCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCA CTTGTTTATCTGCTGACCTTCCCTCCACTGTTGTCCTATGACCCTGCCAA ATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAA AAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00621.hp1 others(149): Show HG00099.hp1 HG00558.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0002c0003 a0003c0006 a0006c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0002t0001 a0001c0002t0006 a0001c0004t0003 a0001c0004t0020 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0006 a0001c0013t0001 a0002c0003t0001 a0002c0003t0004 a0003c0006t0007 a0003c0006t0016 a0006c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0003g0008 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0003g0008 a0001c0001t0005g0006 a0001c0001t0008g0015 a0001c0001t0019g0044 a0001c0002t0001g0009 a0001c0002t0006g0010 a0001c0004t0003g0005 a0001c0004t0020g0030 a0001c0005t0001g0013 a0001c0005t0001g0041 a0001c0007t0001g0016 a0001c0008t0001g0018 a0001c0009t0006g0022 a0001c0013t0001g0042 a0002c0003t0001g0023 a0002c0003t0004g0004 a0002c0003t0004g0028 a0003c0006t0007g0012 a0003c0006t0016g0038 a0006c0014t0001g0043	152	384	0.3958	-757	c.-19 others(11): Show c.-1957_-1201del	GP5	ENSG00000178732.6	transcript	ENST00000692618.1	protein_coding		1170		chr3	TogoVar
MICALL2_chr7_1429359_1464470	1455518	GGCCGTAA others(750): Show GGCCGTAAAGCGGAGATTCACGGACACCTCTCTGTACCTGTGGGGCTCCC CAGTGTGGTCACACGTGGCTCAAGGAGCCGGAACATGGTACACAGGAATG TCCGGATCCCCGCCCCCTCCACCCGGGGTCGGTGGGGCAGAGGCAGAACC AGGAGCCCGGGTGCCCCACCTGGCTGGCCTGGCGCCCGAGCTGGTTCCTT CACAGCTGCTCTCCCTGAGGGCCAAGCGGAAGTGCTCTCTGCGTGCAGCA GGAAGGACTAAGGCCAGACAAAGGGAAGGACTTCCTGGTGGCAGAGCTAC AGACAGGGAGACAGGACGTCCACCCTTCTGCTGTCAAGGGGTCTTCACTG GAAGGAGAGGGGAATGAGGTGGCAAGGGCGGGGCCTCACACAGAGTCTGA CCTCAGAGCTGCCCTGAGAGGACAACCGGTCTGTGCCTGTCCCTCACACG CGTTTCCTCCCTTCCTGAAGACTACTGGGGACAGGAGGGACAGCCAAGGG CTGCATGAGGAGACCTCCACCCCAGCCACCACCTCATCCAGAGGTACGGC AGGGAGCAGAGGCTGAGGGCACGGGATGGGGGTGATGAAGGCACAGAGGC AGGCACGTCCAAAGAGCCAGGGGCCAGGCGCGGCGGCTCACATCTGTAAT CCCAGCGCTTCGGGAGGCTGAGGCAGGAGGATTACTTGAGGCCAGGAGTT CAAGACCAGCCTGGGCAATATAGCCAGAACCCATCTCAATTTAAAAAAGA AACAATAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG00642.hp2 HG01123.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0012 a0001c0007t0001g0012	2	280	0.0071	-757	c.143 others(17): Show c.143+2909_143+3665del	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	1/16			chr7	TogoVar
NRXN1_chr2_49913503_51037132	50253901	TTTGATGT others(750): Show TTTGATGTCAGGATAATGCTGGCCCCATAAAATGAGTTAGGGAGAAGTCC CTCCTTTTCAATTGTTTGGAATCATTTCAGAAGAAATGGTACCAGCTCCC CTCTGTATCTCTAGGAGAATTCAGCTGTAATTCCATCTGGTCCTGGGCTT CTTTTGGTTGGTAGGCTATTTATTACTGCCTTACTTTCAGAACCTGTTTT TGGTCTATTTGGGAATTCAACTTCTTCCTGGTTTAGTCTTGGGAGGGTGT ATGTGTCCAGGAATTTATCCATATTCTCTAGATTTTCTAGTTTGTTTGCA TAGAGGTGTTTATAGTATACTCTGATGGTTGGTTGTATTTCTGTGGGGTC AGTGATGATATCCCCTTTATCATTTTTTATTGTGTCAATTTGATTATTTT CTCTTTTTTTTTATTAGTCTAGCTATCAGTCTATCTGTCTTATTATTTTT TTTCAAAAGACCAGCTCCTGGATTCATTGATTTTTTGAAGAGTTTTTTTG TGTCTTTAGCTCCTTCAGTTCTGCTTTGATCTTGGTTATTTCTTGTCTTC TGCTACCTTTTGGGTTTGTTGGCTCTTGGTTCTTTAGTTCTTCTAGTTGT GATGTTAGGGTGTCAATTTGAGCTCTTCCTAGCATTTTTATATGAGTATT TAGTGCTCTAAATTTCCCTCTTAACAATGCTTTAGCTGCATCCCAAAGAT TCTGGTACATTGTCTCTTTGTTCATTTCTCAATTTTTTAAGTGGTGGTTT TATGCTTA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0101 a0001c0002t0001g0104	2	116	0.0172	-757	c.336 others(21): Show c.3365-17688_3365-16932del	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31510838	TATGTATA others(750): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATA TCTATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATA TGTAACATATGTATATCTATATGTAACATACATGTATATCTATATGTAAC ATACATGTATATCTATATGTAACATACATATATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACACACATATGTATATCTATATGTAACACACATACATATGTATATCTATA TGTAACACACATACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATA TATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACATATATATGTATATCTATATGTAACACACACATATATGTATATCTAT ATGTAACACACACATATATGTATATCTATATGTAACACACACATATATGT ATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACAC ATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTA ACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18973.hp1 NA19005.hp1 HG00544.hp2 NA18973.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0005g0110 a0001c0001t0006g0109 a0001c0001t0014g0130 a0001c0001t0005g0110 a0001c0001t0006g0109 a0001c0001t0014g0130	3	244	0.0123	-757	c.894 others(17): Show c.894-7777_894-7021del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PPP2R3B_chrX_328933_391907	343261	GGAGGCGG others(750): Show GGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCC AACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCT CGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAG ACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAG GGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCG GGAGGGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGA GGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAAC GGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGC CAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGTGAGACC TCAGCAACGGGAGGCGGGAGTGAGACCTCACCAAGGAGACGCGGGAGTGA GACCTCAGCAACGGGAGGGGGGGAGGGAGACCTCACCAAGGAGACGCGGG AGTGAGACCTCAGCAACGGGAGGCGGTAGGGAGACCTCACCAAGGAGACG CGGGAGTGAGACCTCAGCAACGGGAGGCGGGAGGGAGACCTCACCAAGGA GAGGCGGGAGGGAGACCTCAGCAACGGGAGGCGGGAGGGAGACCTCAGCA ACGGGAGGCGGGAGGGAGACCTCAGCAACGGGAGGCGGGAGGGAGACGTC GCCAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0003 a0008c0005t0003	a0008c0005t0003g0006 a0008c0005t0003g0006	1	25	0.0400	-757	c.103 others(19): Show c.1036+1498_1037-1331del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12			chrX	TogoVar
TNNI3K_chr1_74230387_74549428	74364044	GGCTGGAG others(750): Show GGCTGGAGTGCAATGGTGTGATTGTAGCTCACTACAATCTTAAACTCCTG GGTTCAAGTGATTCTCCCACCTCAGGCTACCCAGTAGCTGGGACTACAGG CAGATGCTACCATGCCCCACTAATTTAAAAAAAAATTTTTTTTAGAAATA GGGGTCATGCTATGTTGCCCAGCCTGGTCTTCAACTCCTGGCCTCAAACA ATCCCTCCACCTCAGCCCCACAAAACACTGGGGTATGAGTCAAGACACTC AGCCAAATTTTAATTCCAAAGGAATTTTTGGTCTTTAGTACTACTTTTAT CCTGAGGTTAAAATGGCCACCAAAGCTAGAAAAGAAAATGCTCAACAGCA GGCAGCACCAACACACAAGCAAGGCACAAGCACACTGAAATATTCATGAA ACTGGATGTGGTAGGTAGAGTAATGCCCCCTCAAAGATGTTCAGTTCCTG TTCACTGGAACTGTAAGCAGGCTGCCTTACATGGGGAAGAATCAAGGAGG TAGAGTAATGCCCCCCGCCACCCCCAAAGATGTTCAGGTCCTGTTTGTTG GAACTGTAAGTAGGCTGCCTTACATGGGGAAGAATCAAGGTTGTTATTTA GCTGACTTTAAGAGATAGATTATCCTGGATTATCCCAGTGGGCTCATTGT AATATGGAAAAGGGGGGCAGAAGCAGAGGTCAGAGCAATATGATATGAGG ACTAAGCCAACCATTGCTGGCTTTGAAGCAATAGGAAGGGGGCTACAAGC CAAGGAAT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0110 a0010c0007t0001g0110	1	194	0.0052	-757	c.117 others(19): Show c.1178-3210_1178-2454del	TNNI3K	ENSG00000116783.15	transcript	ENST00000326637.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM55_chr8_66122129_66180485	66123887	TGTTTTTT others(750): Show TGTTTTTTTCTACAAATACTGCTAAATTAGGTTATGAACCCCACTCACTT ATAGAGGGCAGAACTGAAATCCTCCTAGGTGAAGTCACTTTCCAAGACCA CAAAGGGAGGTAGATGCAGAAGCTGGGAGAAAGCCTGACTGTCTCTGACT CACTCTGCAGCCTCTCACTACATCGTCGGTTACTCAGGCTCAGGCATCTG AGTCATCTGTGTGGATTCTACTTTCATAGCAGCCCCAGGGATCATTTCCT CCTTTCCTTCCCCACTGCCATGACCTGTGCCAGGGCTTCGCGACCTCTCA CCTGGACTATTGGCAACAGCCTCTGATCTGGTTTTTAGCCAGCCACCTTC ATGCTAATCTAACCCAATCATCGCTGAAAGATCAATCTAACCAACCACTG CTCTCACGGAAGTGTCCAGTGAGAAACTTTTAACGACTTCCTGCTGCTTA ACTTATTAAGTGTTAAAAACTCTTTAGCACAGTATCCATGGCCAGCCAAT GCTTGAGCGCGTGCCTGCACTCCAGCTCAAGCCACCGTGGCTCTGAGATC CCCTGCATGCCTGTGCATGCCCATGTTGCTGCTTCTGTGCCTTCTCTTGG AAAGCCCCAGCCATGCCCCACCTAACTACACGTCCATCCCTCTGAGATCC TCGGTGCAGCAGTTCAAACACTACCCCCACCCATGAAGCCCTTCTGATTC CTCTGACCCTGAAATGCTGTAGCTGTTGTGAAAGGAAAATAAATATTGGT ATCCCAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	248	0.0040	-757	c.-33 others(11): Show c.-3381_-2625del	TRIM55	ENSG00000147573.17	transcript	ENST00000315962.9	protein_coding		3241		chr8	TogoVar
ADARB2_chr10_1172313_1742525	1237970	CCCTCTGC others(749): Show CCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCT GCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTC CCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGT GTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	106	0.0094	-756	c.136 others(19): Show c.1361+3405_1362-4126del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AKIRIN2_chr6_87669860_87707233	87688490	AATCCCAG others(749): Show AATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGCTGACCTGAGGTAGGGA GTTAAAGATCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAT ACAAAAAAAAATTAGCCAAGCATGCTGGCATGTGCCTGTAATCCTAGTTA TCCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCGGGGGGAGGTGGAGG TTGCAGCGAGCCGAGATTAAGCCAATGCACTCCAGCCTGGGCAACAAGAG TGAAACTCCGTCTCAATAAAAAAAACACACAATAAATGGAGAAGAAGGGG AAATTGAACTGCCCCAAATCCAAAACCCAACATGTGCATGCTACAGAAAC ATTTGGTTCCAAGGCAGAAGGTTCAGCTTCTATTCCAATTAACCACAGCC ACAGGGCCAATGTAATGTGTATTTACCTGCAGGGTTTTAACAAATTGAGT AATTTACTTCAAATAAGTAGCACTAGCTATACAGTACCAGTGAAATGAAA GAATTTGACCTTGTAGTGATTCTAGTTGTTCCTCCTCCTGCAGGGAAGAT AAATGAATGCCTTTTATACAGTTAAATATTATATAAGTATAAATGCAGAA CCTAAGCCAGCTTGCAGAGACTGAGAAGGCAGACTCTTTGAGGACTCCAG TACACCACGATCAAGCTGAAGAACAAAACAATCTCCTATAACAACTTGTT CAGGCACCCCCCAAAAAATTAGCATACCCGGGCCAGGCGCGGTGGCTCAT GTCTATG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	406	0.0025	-756	c.236 others(17): Show c.236-7483_236-6728del	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	1/4			chr6	TogoVar
ANKLE2_chr12_132720503_132766832	132732176	CGCACCGT others(749): Show CGCACCGTGTGAAGCGCTCTGCGTCCTGGTGTCTGATACGCACCGTGTGA AGTGCTCTGCATCCTGGTGTCTGATACGCACCGTGTGAAGCGCTCTGCAT CCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGCGTCCTGGTGTCTGA TACGCACCGTGTGAAGCTCTCTGCGTCCTGGTGTCTGATACGCACTGTGA AGCGCTCTGCGTGCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGCGT CCTGGTGTCTGATATGCACCGTGTGAAGCTCTCTGCGTGCTGGTGTCTGA CATGCACCGTGTGAAGCTCTCTGAGTGCTGGTGTCTGATACGCACCGTGT GAAGCTCTCTGCATGCTGGTGTCTGATATGCACCGTGTGAAGCACTGCGC GTCCTGGCGTCTGATACGCACCGTGTGAAGCTCTCTGCGTCCTGGTGTCT GATACGCACCGTGAAGCGCTCTGCGTGCTGGTGTCTGATACGCACCGTGT GAAGCTCTCTGCGTCCTGGTGTCTGATATGCACCGTGTGAAGCTCTCTGC GTCCTGGTGTCTGATATGCACCATGTGAAGCACTGCGCGTCCTGGTGTCT GATATGCACCGTGTGAAGCTCTCTGCGTCCTGGTGTCTGACGTGCACCAT GTGAAGCCCTCTGCGTGCTGGTGTCTGATATGCACCGTGTGAAGCGCTCT GCATCCTGGTGTCTGAAATGCACCGTGTGAAGCGCTCTGCATCCTGGTGT CTGATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp2 HG02738.hp1 others(4): Show HG00323.hp2 HG01175.hp2 HG02738.hp1 HG03669.hp2 HG04115.hp2 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0006 a0001c0012t0001 a0001c0001t0001 a0001c0001t0006 a0001c0012t0001	a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0006g0174 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0006g0174 a0001c0001t0006g0177 a0001c0012t0001g0045 a0001c0012t0001g0258 a0001c0012t0001g0261	7	350	0.0200	-756	c.189 others(19): Show c.1891+1453_1892-1907del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89429130	GACTCTCA others(749): Show GACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATTCTCA ACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCAC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGAC GTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGT ACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCA GGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCT CAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTC GCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTC TCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTC AGTCGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACAC AGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01515.hp1 HG01517.hp2 others(5): Show HG00639.hp2 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02965.hp1 HG02976.hp2 HG03516.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0024 others(2): Show a0001c0001 a0001c0006 a0001c0024 a0002c0002 a0003c0017	a0001c0001t0001 a0001c0006t0001 a0001c0024t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0024t0001 a0002c0002t0002 a0003c0017t0003	a0001c0001t0001g0002 a0001c0001t0001g0151 a0001c0001t0001g0196 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0006t0001g0225 a0001c0024t0001g0270 a0002c0002t0002g0112 a0002c0002t0002g0113 a0003c0017t0003g0199	8	310	0.0258	-756	c.-14 others(21): Show c.-144-11518_-144-10763del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647539	AGTGGAGA others(749): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGC CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGA CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGC GGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	392	0.0026	-756	c.253 others(15): Show c.253-964_253-209del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
EDARADD_chr1_236389286_236489930	236420806	GTCTCGGC others(749): Show GTCTCGGCTCACTGCACTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCT CCTGAGTAGCTGAGATTACAGGCACCCGCCACCACACCAAGTTAATTTTT GTATTTCTAGTAGAGATGTGGTTTCACCATGTTGGCCAGGCTGGTCTCGA AGTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACTGTGCCCTGCCAGGAGAATGTGTTTTGATTGTC TCCTCTTCACCCTGTTGGTGAGGGAGGGATTCCATCTTAGGGTTACAGGG ATGGCCAAACACATGACACTCAACACTTAACAGATGAGATCGACAGGAAT TTATGAGTCATGTATACTCAGTCCAGGAGGGGAGGACACTGTGCGTCATG CAGGGCCACATGGAGGTTGCACTTAGGAGCAGAGCAAACAACAAGGGGCT GTCAGACAGGCTTTATGGTATTAAGCAAGTGGGGTGCCTCCTGGTTGTCA GGATGTGATTGGCTTGTTTGAGTTAAGTCCATGGAATCAGGGGAAATGAA GCCCATTACAAAAAGAGAACAAGGACTGTGCGTGGTCCCCTTGGTAAGGG GCGTTGTTTGGCTAGGGGACTTTGGCCATGGGAGCAGAGTGGGAAGGAGA CTTGTGGTTAGGCCATTCAAGACCTTCCCAGTTCTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGGGTGCAGT GGCTCAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG01192.hp1 others(26): Show HG00140.hp1 HG00597.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp2 HG01943.hp2 HG02273.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG03130.hp2 HG03688.hp1 HG04184.hp2 HG04228.hp1 NA18944.hp1 NA18951.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18989.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19060.hp1 NA19063.hp1 NA19077.hp2 NA19080.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0003t0002 a0001c0004t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0109 others(26): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0002g0051 a0001c0001t0002g0174 a0001c0001t0003g0052 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0004g0002 a0001c0001t0004g0111 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0005g0123 a0001c0001t0008g0003 a0001c0003t0002g0007 a0001c0003t0002g0031 a0001c0004t0005g0161 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0262 a0002c0002t0002g0251 a0002c0002t0002g0286 a0002c0002t0004g0249 a0002c0002t0011g0284	29	294	0.0986	-756	c.160 others(17): Show c.160+6523_161-5815del	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDDM13_chr19_56267748_56315454	56306300	CGCCAGAG others(749): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTC CCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGA GATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCC ACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTG ATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAG TACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAGCTACAAAGAGGC TCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGG GAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTC CCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	396	0.0025	-756	c.461 others(17): Show c.461+1586_461+2341del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF2AK2_chr2_37094210_37161980	37120508	CAAAAAAA others(749): Show CAAAAAAAAAAAAAAAAAGAAAAAAAAAGAACCCCAAAACATGTCACAAA ATAGAAATCTAAATATAATAAACAAATTTGAATCAAAATATAATAGGCCA TTTTTTATTTCAATCATAAGTTCCCGGATGTCCAGAGCTTTATTTGTTTA GCTAATTTATAAAATATGAGCTGGGCTGGGCACGGTGGCTCACGCCTATA ATCCTAGCACCTTGGGAGGCCGAGACTGGCGGATTGCTTGAGCTCAGGAG TTTGAGACCAGCCTGGGCAGCATGGCGAAACCCCATCTCTACTAAAAACA CAAAAATTAGCTGGGTGTGGTGGCGCGGCACCTGTAGTCTCAGCTACTCG GGAGGATGAGGCACGAGAATCATTTGAACCCAGAAGGCAGAGATTGCAGT AAGCTGAGATCACGCCATTGTGCTCCCGCATGAGCGATAGAGTAAGACTC TGTCTCAAAAAAAAAAAAAGAAGAGGCCGGGCGCGGTGGCTCACGCATGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAG GAGACTGAGGCAGGAGAATACTGTGAATCCGGGAGGCAGAGCTTGCAGTG AGCCAAGATTGCACCACTGCACTCCAGCCTGTGCGACAGTGCGAGACACC GTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01952.hp1 HG02004.hp2 others(6): Show HG00642.hp2 HG01952.hp1 HG02004.hp2 HG02683.hp1 HG02698.hp1 HG03654.hp2 HG03834.hp2 HG03942.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0066 a0001c0001t0004 a0001c0001t0027 a0001c0001t0066	a0001c0001t0004g0047 a0001c0001t0004g0155 a0001c0001t0004g0156 others(6): Show a0001c0001t0004g0047 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0160 a0001c0001t0004g0163 a0001c0001t0004g0206 a0001c0001t0027g0093 a0001c0001t0066g0303	9	326	0.0276	-756	c.106 others(18): Show c.1068-1125_1068-370del	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	12/16			chr2	TogoVar
FANCD2_chr3_10021437_10106932	10050438	CACGGTGA others(749): Show CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATCG TGGCGGTCGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATG GCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATAACACCACTGC ACTCCAGTCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAA AAAAAAGGCTTAGAAGAGCACAGACATTTTGAGAAGGTTAAAGTTTAAGT GGCAGATGAAAGCAAATGTCCATAGAAGGAAAATGAGAAACCTGGAAGAT TAATAATGTGAGCTTAAAGGATGTCAGGTAGCAAAAGCCCAGGAATGAGT TTCAAGAGTGAGGGATTGGCCGGGCACAGTGACTCATGCTTGTAATACCA GCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTTGGGAGTTCGAA TCAGCCTGACCAACATGGAGAAAGCCCTCCTCTACTAAAAATACAAAAAT TACCTGGGCATTGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAG ATCATGCCATCACACTCCAGCCTAGGCGAGAAGAGCGAAACTGTCAAAAA AAAAAGAGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0168 a0003c0004t0003g0168	1	242	0.0041	-756	c.154 others(18): Show c.1545+969_1546-1158del	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	17/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
INPP5A_chr10_132532787_132788480	132772027	ACCCGATG others(749): Show ACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGC AGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAG GCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACAC AGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTG ACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGC ACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGACACT CAGCACTGACACGGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGA CACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCATGAAGAGTGGGA CAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGT GGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAG GAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCA CGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCGC CCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCACGGCAG CCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCACG GCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	204	0.0049	-756	c.978 others(17): Show c.978-5640_978-4885del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICAL3_chr22_17782649_18029561	17876721	TGGAGGTT others(749): Show TGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGT TAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGG AGGTTAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0057 a0007c0057	a0007c0057t0002 a0007c0057t0002	a0007c0057t0002g0199 a0007c0057t0002g0199	1	274	0.0037	-756	c.224 others(19): Show c.2242-5454_2242-4699del	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
RASA3_chr13_113972783_114137623	114083824	ACGGGGAA others(749): Show ACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCAC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	-756	c.56- others(16): Show c.56-10743_56-9988del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114084617	GTCCTCGC others(749): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	67	0.0149	-756	c.56- others(17): Show c.56-11536_56-10781del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086499	CTCCCTTC others(749): Show CTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGG GGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAG TATTTAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18945.hp1 HG04115.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0002 a0001c0010t0002 a0001c0002t0002 a0001c0010t0002	a0001c0002t0002g0057 a0001c0010t0002g0052 a0001c0002t0002g0057 a0001c0010t0002g0052	2	67	0.0299	-756	c.56- others(17): Show c.56-13418_56-12663del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RPTOR_chr17_80539838_80971368	80744091	CCCTGGTT others(749): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp1 HG02145.hp2 HG03486.hp1	a0001 a0001	a0001c0047 a0001c0048 a0001c0047 a0001c0048	a0001c0047t0012 a0001c0048t0073 a0001c0047t0012 a0001c0048t0073	a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0047t0012g0150 a0001c0048t0073g0144	2	196	0.0102	-756	c.655 others(17): Show c.655-9913_655-9158del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	933980	AGGGGAGG others(749): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGG GCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGC TCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	434	0.0023	-756	c.843 others(16): Show c.843-1708_843-953del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934064	AGGGGAGG others(749): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19001.hp2 NA19077.hp1 NA18951.hp2 NA19001.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0018 a0001c0001t0001g0088	3	434	0.0069	-756	c.843 others(16): Show c.843-1695_843-940del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934092	AGGGGAGG others(749): Show AGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18966.hp2 NA18612.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0025 a0001c0002t0004 a0001c0002t0025	a0001c0002t0004g0327 a0001c0002t0025g0344 a0001c0002t0004g0327 a0001c0002t0025g0344	2	434	0.0046	-756	c.843 others(16): Show c.843-1667_843-912del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934148	AGGGGAGG others(749): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0002 a0004c0036t0002	a0004c0036t0002g0346 a0004c0036t0002g0346	1	434	0.0023	-756	c.843 others(16): Show c.843-1596_843-841del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 4625 hits)